Oscar Papazian - Academia.edu (original) (raw)
Papers by Oscar Papazian
The Journal of Pediatrics, Jan 8, 2002
Adolescents with muscular dystrophies
Adolescent medicine (Philadelphia, Pa.), 2002
The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-ass... more The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-associated proteins or nuclear membrane-associated proteins. They are manifested by progressive striated muscle weakness and wasting. Cardiac and central nervous system abnormalities may be present. MD phenotypes vary in terms of defective gene, mode of inheritance, age of onset, distribution of muscle involvement, and severity. Clinical diagnosis is confirmed by direct or indirect mutation analysis and gene product defect detection in frozen muscle samples by immunohistochemistry and Western blot. The majority of the adolescents with MD are already aware of the nature and course of their condition, which adds a significant psychosocial pathology to their physical disability. Management includes: (1). prevention of new cases by preconception counseling, prenatal testing, and neonatal screening; (2). prevention and treatment of skeletal deformities, cardiac and respiratory insufficiencies, a...
Resumen Los potenciales evocados (PE) son procedimientos neurofisiológicos más sensibles que espe... more Resumen Los potenciales evocados (PE) son procedimientos neurofisiológicos más sensibles que específi- cos, objetivos, fidedignos, reproducibles y seguros que se emplean para evaluar la integridad de las vías sensoriales y motoras periféricas y centrales. La integridad de estas vías se determina midiendo la latencia de los eventos eléctricos producidos por estímulos adecuados y registrados después de ser promediados digitalmente. Las
Intrauterine shoulder weakness and obstetric brachial plexus palsy
Pediatric Neurology, 2004
Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial ... more Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial plexus are overcome by the forces stretching it. This report describes an 8-day-old male delivered by uncomplicated cesarean section with right obstetrical brachial plexus palsy and congenital arm atrophy. The patient had a history of decreased right arm movement detected by fetal ultrasound at 18 to 20 weeks of gestation. The purpose of this article is to report that stretching of brachial plexus at birth sufficient to produce a plexus injury may occur in a patient with a vulnerable plexus even in the absence of traction during delivery.
Focal upper extremity neuropathy in neonates
Seminars in Pediatric Neurology, 2000
Focal upper extremity neuropathies are common in neonates. The brachial plexus is the most common... more Focal upper extremity neuropathies are common in neonates. The brachial plexus is the most common site involved. Brachial plexus injuries may involve different structures, thus producing different clinical presentations: complete brachial plexus palsy, Duchenne-Erb palsy, upper-middle trunk brachial plexus palsy, Klumpke palsy, fascicular brachial plexus palsy, and bilateral brachial plexus palsy. The causes of brachial plexus palsy are obstetric injury, intrauterine compression, humeral osteomyelitis, hemangioma, exostosis of the first rib, neck compression, and neoplasm. The differential diagnosis of brachial plexus palsy includes pseudoparesis, amyoplasia congenita, congenita varicella syndrome, and neurological lesions at other neuroanatomical levels. The cause and the degree of injury dictate the prognosis. The prognosis of obstetric brachial plexus injury is usually good.
Fetal Deformations: A Risk Factor for Obstetrical Brachial Plexus Palsy?
Pediatric Neurology, 2006
The purpose of this report is to discuss the association of brachial plexus palsy and congenital ... more The purpose of this report is to discuss the association of brachial plexus palsy and congenital deformations. We reviewed all charts of patients less than 1 year of age with obstetrical brachial plexus palsy evaluated by one of the authors (IA) between January 1998 and October 2005 at Miami Children's Hospital Brachial Plexus Center. Of 158 patients with obstetrical brachial plexus palsy, 7 had deformations (4.4%). Deformations were present in 32% of patients delivered by cesarean section, but in only 2% of patients delivered vaginally. The deformations were ipsilateral, involving the chest in two patients, distal arms in two patients, proximal arm in one patient, ear in one patient, and the leg in one patient. All patients with deformations had unilateral Erb's palsies. None had a history of maternal uterine malformation. Two presumptive mechanisms of injury, one causing the deformation (compressive forces) and one causing brachial plexus palsy at the time of delivery (traction forces), were present in all cases. The higher incidence of deformation in patients with obstetrical brachial plexus palsy born by cesarean sections and the presence of two presumptive mechanisms in all of the cases presented here raises the possibility that fetal deformations are a risk factor for obstetrical brachial plexus palsy.
Seminars in Plastic Surgery, 2004
This article reviews the authors' experience over the last decade in the multidisciplinary manage... more This article reviews the authors' experience over the last decade in the multidisciplinary management of children with brachial plexus birth injuries. When compared with the results of a study of 91 children who received nonoperative treatment, the results of surgical intervention can improve the functional outcome in properly selected infants.
Neoplasm as a cause of brachial plexus palsy in neonates
Pediatric Neurology, 2000
Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the bra... more Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days of age and left proximal arm weakness. The weakness involved the whole arm within 3 days. The mass was a malignant rhabdoid tumor. The second patient was a 28-month-old male who presented with slowly progressive right arm weakness, which began at 3 weeks of age, and episodes of scratch marks on the arm that began at 4 months of age. Magnetic resonance imaging revealed a plexiform neurofibroma of the brachial plexus. The features that are suggestive of a brachial plexus palsy caused by a neoplasm rather than of obstetric brachial plexus palsy include the following: the onset of weakness after the first day of age, with a progressive course; a history of a normal delivery and birth weight; the absence of signs of a traumatic injury or injuries; the appearance before 7 days of age of a growing supraclavicular mass without radiographic evidence of a clavicular fracture; and recurrent scratch marks on the weak arm.
Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions
Pediatric Neurology, 1997
We report an electroclinical pattern considered characteristic of benign familial neonatal convul... more We report an electroclinical pattern considered characteristic of benign familial neonatal convulsions (BFNC) in two neonates without BFNC. Both neonates were products of uncomplicated pregnancies, labor, and deliveries. The cause of the seizures was not established. There was no family history of seizures or epilepsy. Seizures started on the second and third days after birth. Ten seizures were captured by continuous video-EEG telemetry. The electroclinical events began with generalized tonic posturing coinciding with the appearance of diffuse attenuation of the EEG activity. After several seconds, bilateral clonic movements accompanied by bilateral repetitive sharp waves or spikes occurred in the EEG. One patient had normal development; the other became autistic. We conclude that the electroclinical pattern occurring in BFNC can occur in other types of neonatal seizures.
Similar brain spect findings in subclinical and clinical seizures in two neonates with hemimegalencephaly
Pediatric Neurology, 1998
Brain single-photon emission computed tomography (SPECT) findings during clinical and subclinical... more Brain single-photon emission computed tomography (SPECT) findings during clinical and subclinical seizures were compared in two neonates with hemimegalencephaly. Interictal and ictal brain SPECT were performed in two neonates. The ictal studies were performed during a clinical seizure in one neonate and during a subclinical seizure in another neonate. They revealed similar focal hemispheric hyperperfusion at the electroencephalographic seizure foci in both cases. The similar perfusion patterns imply that clinical and subclinical seizures place similar metabolic demands on the cerebral tissue involved in the generation of electroencephalographic seizures in neonates with cerebral dysgenesis and suggest that clinical and subclinical seizures should be treated similarly in this population.
The Journal of Pediatrics, 2002
Intravenous Valproate Dosing in Neonates
Journal of Child Neurology, 2000
The loading dosage of intravenous valproate required to achieve a desired serum concentration in ... more The loading dosage of intravenous valproate required to achieve a desired serum concentration in neonates is not known. Two neonates with seizures received loading doses of intravenous valproate over 30 minutes. Serum valproate concentrations were measured 45 minutes and 3 hours after initiation of the infusion. Both neonates had received phenobarbital and phenytoin before the loading infusions. In the first patient, a loading dose of intravenous valproate of 10 mg/kg increased the 45-minute postinfusion serum valproate concentration to 41 microg/mL with a 3-hour postinfusion serum valproate concentration of 33 microg/mL. In the second patient, a loading dose of 25 mg/kg increased the 45-minute postinfusion serum valproic acid concentration to 100 microg/mL with a 3-hour postinfusion serum valproic acid concentration of 78 microg/mL. We found that each 1 mg/kg of intravenous valproate increased the 45-minute and 3-hour postinfusion serum valproic acid concentrations by approximately 4 microg/mL and 3 microg/mL, respectively. We suggest that these figures be used to calculate the desirable loading dose of intravenous valproate in neonates until larger studies are conducted. The volume of distribution and the serum clearance of valproate were approximately 0.245 L/kg and 25 mL/h/kg, respectively.
Opsoclonus: An Early Sign of Neonatal Herpes Encephalitis
Journal of Child Neurology, 2003
Preferential involvement of certain central nervous systems areas by specific viruses provides a ... more Preferential involvement of certain central nervous systems areas by specific viruses provides a valuable guide to the selection of antiviral agents. We report a neonate that developed opsoclonus 7 days prior to the diagnosis of herpes simplex type 2 cerebellitis. The course of the opsoclonus paralleled the clinical course and radiologic evolution of the infection. The purpose of this report is to describe opsoclonus as a possible early sign of herpes simplex type 2 central nervous system infection.
Bilateral Decreased Oxygenation During Focal Status Epilepticus in a Neonate With Hemimegalencephaly
Journal of Child Neurology, 2004
Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemi... more Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemimegalencephaly and medically resistant seizures. We analyzed the changes in the cerebral regional oxygen saturation index in a neonate with tuberous sclerosis and right hemimegalencephaly (1) during seven episodes of right hemisphere electroencephalographic status epilepticus with and without clinical manifestations and (2) after right hemispherectomy. The cerebral regional oxygen saturation index demonstrated marked fluctuations and progressive decline in both hemispheres during the episodes and normal values in the remaining hemisphere after surgery. We speculate that decreased oxygenation of the nonepileptic cerebral hemisphere in patients with hemimegalencephaly and medically resistant seizures can contribute to the production of global neurologic impairments in these patients and that the benefits of early hemispherectomy are due to the improved oxygenation of the nondysplastic hemisphere following surgery.
Single Photon Emission Computed Tomographic Evaluation of Brainstem Release Phenomenon and Seizure in Neonates
Journal of Child Neurology, 2000
We report the ictal brain single photon emission computed tomographic (SPECT) findings in two neo... more We report the ictal brain single photon emission computed tomographic (SPECT) findings in two neonates. One neonate had hypoxic-ischemic encephalopathy, a disorganized discontinuous electroencephalogram (EEG) background, lethargy, seizures, and brainstem release phenomena. A brain SPECT was performed during a brainstem release phenomenon characterized by a 34-second sustained tonic posture of the right arm and chewing. It did not reveal focal cerebral hemisphere hyperfusion. The second neonate had hemimegalencephaly, low-voltage irregular EEG background, and seizures. A brain SPECT was performed during a seizure characterized by a 32-second sustained tonic posture of the right arm. It revealed focal hyperperfusion in the posterior region of the left hemisphere. The brain SPECT findings in these patients indicate that despite clinically similar events, brainstem release phenomena and seizures have different perfusion characteristics, and refute the theory that brainstem release phenomena are due to epileptic foci in the cerebral hemispheres undetectable by EEG.
Interictal and Ictal SPECT in a Neonate With Hemimegalencephaly
CLINICAL NUCLEAR MEDICINE, 1997
Wolters Kluwer Health may email you for journal alerts and information, but is committed to maint... more Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. For more information, please refer to our Privacy Policy. ... Skip Navigation Links Home > May ...
Annals of Neurology, 1995
awareness of MJD subtype IV and encourage the search for the mutation in patients presenting with... more awareness of MJD subtype IV and encourage the search for the mutation in patients presenting with atypical parkinsonism combined with features of peripheral neuropathy { 16-181. Obviously, a family history of neurologic disease would further support this; however, the absence of this feature, as was initially the case in our second patient, should not detract from the diagnostic consideration.
The Journal of Pediatrics, Jan 8, 2002
Adolescents with muscular dystrophies
Adolescent medicine (Philadelphia, Pa.), 2002
The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-ass... more The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-associated proteins or nuclear membrane-associated proteins. They are manifested by progressive striated muscle weakness and wasting. Cardiac and central nervous system abnormalities may be present. MD phenotypes vary in terms of defective gene, mode of inheritance, age of onset, distribution of muscle involvement, and severity. Clinical diagnosis is confirmed by direct or indirect mutation analysis and gene product defect detection in frozen muscle samples by immunohistochemistry and Western blot. The majority of the adolescents with MD are already aware of the nature and course of their condition, which adds a significant psychosocial pathology to their physical disability. Management includes: (1). prevention of new cases by preconception counseling, prenatal testing, and neonatal screening; (2). prevention and treatment of skeletal deformities, cardiac and respiratory insufficiencies, a...
Resumen Los potenciales evocados (PE) son procedimientos neurofisiológicos más sensibles que espe... more Resumen Los potenciales evocados (PE) son procedimientos neurofisiológicos más sensibles que específi- cos, objetivos, fidedignos, reproducibles y seguros que se emplean para evaluar la integridad de las vías sensoriales y motoras periféricas y centrales. La integridad de estas vías se determina midiendo la latencia de los eventos eléctricos producidos por estímulos adecuados y registrados después de ser promediados digitalmente. Las
Intrauterine shoulder weakness and obstetric brachial plexus palsy
Pediatric Neurology, 2004
Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial ... more Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial plexus are overcome by the forces stretching it. This report describes an 8-day-old male delivered by uncomplicated cesarean section with right obstetrical brachial plexus palsy and congenital arm atrophy. The patient had a history of decreased right arm movement detected by fetal ultrasound at 18 to 20 weeks of gestation. The purpose of this article is to report that stretching of brachial plexus at birth sufficient to produce a plexus injury may occur in a patient with a vulnerable plexus even in the absence of traction during delivery.
Focal upper extremity neuropathy in neonates
Seminars in Pediatric Neurology, 2000
Focal upper extremity neuropathies are common in neonates. The brachial plexus is the most common... more Focal upper extremity neuropathies are common in neonates. The brachial plexus is the most common site involved. Brachial plexus injuries may involve different structures, thus producing different clinical presentations: complete brachial plexus palsy, Duchenne-Erb palsy, upper-middle trunk brachial plexus palsy, Klumpke palsy, fascicular brachial plexus palsy, and bilateral brachial plexus palsy. The causes of brachial plexus palsy are obstetric injury, intrauterine compression, humeral osteomyelitis, hemangioma, exostosis of the first rib, neck compression, and neoplasm. The differential diagnosis of brachial plexus palsy includes pseudoparesis, amyoplasia congenita, congenita varicella syndrome, and neurological lesions at other neuroanatomical levels. The cause and the degree of injury dictate the prognosis. The prognosis of obstetric brachial plexus injury is usually good.
Fetal Deformations: A Risk Factor for Obstetrical Brachial Plexus Palsy?
Pediatric Neurology, 2006
The purpose of this report is to discuss the association of brachial plexus palsy and congenital ... more The purpose of this report is to discuss the association of brachial plexus palsy and congenital deformations. We reviewed all charts of patients less than 1 year of age with obstetrical brachial plexus palsy evaluated by one of the authors (IA) between January 1998 and October 2005 at Miami Children's Hospital Brachial Plexus Center. Of 158 patients with obstetrical brachial plexus palsy, 7 had deformations (4.4%). Deformations were present in 32% of patients delivered by cesarean section, but in only 2% of patients delivered vaginally. The deformations were ipsilateral, involving the chest in two patients, distal arms in two patients, proximal arm in one patient, ear in one patient, and the leg in one patient. All patients with deformations had unilateral Erb's palsies. None had a history of maternal uterine malformation. Two presumptive mechanisms of injury, one causing the deformation (compressive forces) and one causing brachial plexus palsy at the time of delivery (traction forces), were present in all cases. The higher incidence of deformation in patients with obstetrical brachial plexus palsy born by cesarean sections and the presence of two presumptive mechanisms in all of the cases presented here raises the possibility that fetal deformations are a risk factor for obstetrical brachial plexus palsy.
Seminars in Plastic Surgery, 2004
This article reviews the authors' experience over the last decade in the multidisciplinary manage... more This article reviews the authors' experience over the last decade in the multidisciplinary management of children with brachial plexus birth injuries. When compared with the results of a study of 91 children who received nonoperative treatment, the results of surgical intervention can improve the functional outcome in properly selected infants.
Neoplasm as a cause of brachial plexus palsy in neonates
Pediatric Neurology, 2000
Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the bra... more Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days of age and left proximal arm weakness. The weakness involved the whole arm within 3 days. The mass was a malignant rhabdoid tumor. The second patient was a 28-month-old male who presented with slowly progressive right arm weakness, which began at 3 weeks of age, and episodes of scratch marks on the arm that began at 4 months of age. Magnetic resonance imaging revealed a plexiform neurofibroma of the brachial plexus. The features that are suggestive of a brachial plexus palsy caused by a neoplasm rather than of obstetric brachial plexus palsy include the following: the onset of weakness after the first day of age, with a progressive course; a history of a normal delivery and birth weight; the absence of signs of a traumatic injury or injuries; the appearance before 7 days of age of a growing supraclavicular mass without radiographic evidence of a clavicular fracture; and recurrent scratch marks on the weak arm.
Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions
Pediatric Neurology, 1997
We report an electroclinical pattern considered characteristic of benign familial neonatal convul... more We report an electroclinical pattern considered characteristic of benign familial neonatal convulsions (BFNC) in two neonates without BFNC. Both neonates were products of uncomplicated pregnancies, labor, and deliveries. The cause of the seizures was not established. There was no family history of seizures or epilepsy. Seizures started on the second and third days after birth. Ten seizures were captured by continuous video-EEG telemetry. The electroclinical events began with generalized tonic posturing coinciding with the appearance of diffuse attenuation of the EEG activity. After several seconds, bilateral clonic movements accompanied by bilateral repetitive sharp waves or spikes occurred in the EEG. One patient had normal development; the other became autistic. We conclude that the electroclinical pattern occurring in BFNC can occur in other types of neonatal seizures.
Similar brain spect findings in subclinical and clinical seizures in two neonates with hemimegalencephaly
Pediatric Neurology, 1998
Brain single-photon emission computed tomography (SPECT) findings during clinical and subclinical... more Brain single-photon emission computed tomography (SPECT) findings during clinical and subclinical seizures were compared in two neonates with hemimegalencephaly. Interictal and ictal brain SPECT were performed in two neonates. The ictal studies were performed during a clinical seizure in one neonate and during a subclinical seizure in another neonate. They revealed similar focal hemispheric hyperperfusion at the electroencephalographic seizure foci in both cases. The similar perfusion patterns imply that clinical and subclinical seizures place similar metabolic demands on the cerebral tissue involved in the generation of electroencephalographic seizures in neonates with cerebral dysgenesis and suggest that clinical and subclinical seizures should be treated similarly in this population.
The Journal of Pediatrics, 2002
Intravenous Valproate Dosing in Neonates
Journal of Child Neurology, 2000
The loading dosage of intravenous valproate required to achieve a desired serum concentration in ... more The loading dosage of intravenous valproate required to achieve a desired serum concentration in neonates is not known. Two neonates with seizures received loading doses of intravenous valproate over 30 minutes. Serum valproate concentrations were measured 45 minutes and 3 hours after initiation of the infusion. Both neonates had received phenobarbital and phenytoin before the loading infusions. In the first patient, a loading dose of intravenous valproate of 10 mg/kg increased the 45-minute postinfusion serum valproate concentration to 41 microg/mL with a 3-hour postinfusion serum valproate concentration of 33 microg/mL. In the second patient, a loading dose of 25 mg/kg increased the 45-minute postinfusion serum valproic acid concentration to 100 microg/mL with a 3-hour postinfusion serum valproic acid concentration of 78 microg/mL. We found that each 1 mg/kg of intravenous valproate increased the 45-minute and 3-hour postinfusion serum valproic acid concentrations by approximately 4 microg/mL and 3 microg/mL, respectively. We suggest that these figures be used to calculate the desirable loading dose of intravenous valproate in neonates until larger studies are conducted. The volume of distribution and the serum clearance of valproate were approximately 0.245 L/kg and 25 mL/h/kg, respectively.
Opsoclonus: An Early Sign of Neonatal Herpes Encephalitis
Journal of Child Neurology, 2003
Preferential involvement of certain central nervous systems areas by specific viruses provides a ... more Preferential involvement of certain central nervous systems areas by specific viruses provides a valuable guide to the selection of antiviral agents. We report a neonate that developed opsoclonus 7 days prior to the diagnosis of herpes simplex type 2 cerebellitis. The course of the opsoclonus paralleled the clinical course and radiologic evolution of the infection. The purpose of this report is to describe opsoclonus as a possible early sign of herpes simplex type 2 central nervous system infection.
Bilateral Decreased Oxygenation During Focal Status Epilepticus in a Neonate With Hemimegalencephaly
Journal of Child Neurology, 2004
Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemi... more Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemimegalencephaly and medically resistant seizures. We analyzed the changes in the cerebral regional oxygen saturation index in a neonate with tuberous sclerosis and right hemimegalencephaly (1) during seven episodes of right hemisphere electroencephalographic status epilepticus with and without clinical manifestations and (2) after right hemispherectomy. The cerebral regional oxygen saturation index demonstrated marked fluctuations and progressive decline in both hemispheres during the episodes and normal values in the remaining hemisphere after surgery. We speculate that decreased oxygenation of the nonepileptic cerebral hemisphere in patients with hemimegalencephaly and medically resistant seizures can contribute to the production of global neurologic impairments in these patients and that the benefits of early hemispherectomy are due to the improved oxygenation of the nondysplastic hemisphere following surgery.
Single Photon Emission Computed Tomographic Evaluation of Brainstem Release Phenomenon and Seizure in Neonates
Journal of Child Neurology, 2000
We report the ictal brain single photon emission computed tomographic (SPECT) findings in two neo... more We report the ictal brain single photon emission computed tomographic (SPECT) findings in two neonates. One neonate had hypoxic-ischemic encephalopathy, a disorganized discontinuous electroencephalogram (EEG) background, lethargy, seizures, and brainstem release phenomena. A brain SPECT was performed during a brainstem release phenomenon characterized by a 34-second sustained tonic posture of the right arm and chewing. It did not reveal focal cerebral hemisphere hyperfusion. The second neonate had hemimegalencephaly, low-voltage irregular EEG background, and seizures. A brain SPECT was performed during a seizure characterized by a 32-second sustained tonic posture of the right arm. It revealed focal hyperperfusion in the posterior region of the left hemisphere. The brain SPECT findings in these patients indicate that despite clinically similar events, brainstem release phenomena and seizures have different perfusion characteristics, and refute the theory that brainstem release phenomena are due to epileptic foci in the cerebral hemispheres undetectable by EEG.
Interictal and Ictal SPECT in a Neonate With Hemimegalencephaly
CLINICAL NUCLEAR MEDICINE, 1997
Wolters Kluwer Health may email you for journal alerts and information, but is committed to maint... more Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. For more information, please refer to our Privacy Policy. ... Skip Navigation Links Home > May ...
Annals of Neurology, 1995
awareness of MJD subtype IV and encourage the search for the mutation in patients presenting with... more awareness of MJD subtype IV and encourage the search for the mutation in patients presenting with atypical parkinsonism combined with features of peripheral neuropathy { 16-181. Obviously, a family history of neurologic disease would further support this; however, the absence of this feature, as was initially the case in our second patient, should not detract from the diagnostic consideration.