Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement (original) (raw)
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Infantile axonal neuropathy in two siblings
Neuromuscular Disorders, 1994
Two siblings presented with a recurrent axonal neuropathy associated with intercurrent infection. One child had mild global developmental delay. The CSF was normal and haematological and biochemical tests failed to reveal a metabolic disorder. Nerve conduction studies in both children showed a mixed sensory and motor axonal neuropathy. Sural nerve biopsies showed severe ongoing axonal degeneration. At post mortem examination peripheral nerves showed widespread axonal loss with a marked reduction of anterior horn and posterior root ganglion cells. Mild diffuse endoneurial cell inflammation was present in the peripheral nerves and some posterior roots. We believe that these siblings died from a genetically determined axonal neuropathy with central nervous system involvement.
American journal of medical genetics, 1998
We describe two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood in severely affected persons. Life expectancy in severely affected patients is shortened because of respiratory failure. Because nerve conduction velocities are normal and it is an inherited axonal neuropathy, we classify the disorder as a variety of hereditary motor and sensory neuropathy type I1 (HMSN 11) (HMSN IIc). The present report provides further evidence for heterogeneity among the hereditary motor and sensory neuropathy type I1 disorders. In one large pedigree with the type IIc disorder, no linkage to DNA markers known to map near the HMSN IA locus on chromosome 17p or the HMSN IB locus on chromosome lq was demonstrated.
Congenital hypomyelination with axonopathy
European Journal of Pediatrics, 1989
We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral nerve were unusual with sparsity of myelinated fibres, lack of "onion bulb" formation and presence of axonal damage. This case is compared with previously reported cases of early infantile neuropathy.
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
Journal of the Peripheral Nervous System, 2012
The infantile-onset axonal neuropathies and neuronopathies are an uncommon and heterogeneous group of conditions causing weakness, wasting, and developmental delay in early childhood. Many are associated with central nervous system or other systemic manifestations and cause early mortality. We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, early-onset neuropathies associated with mitochondrial disorders, and other less well-delineated clinical entities. Useful clinical and neuropathologic features in the diagnostic work-up of these conditions are also presented.
Late-onset hereditary axonal neuropathies
Neurology, 2008
Background: Hereditary motor-sensory neuropathy or the Charcot-Marie-Tooth syndrome is known to represent considerable genetic heterogeneity. Onset is usually in childhood, adolescence, or young adulthood. The objective of this study was to define late-onset forms of the disorder. Methods: A clinical and genetic study of families with uniformly late onset of peripheral neuropathy was performed in a university neurogenetics setting. Results: Six families were identified with consistently late onset of a primarily axonal neuropathy. Median age at symptom onset was 57 years (range 35-85 years) of a mixed motor and sensory neuropathy with electrophysiologic characteristics of an axonal rather than demyelinating condition. There was a possible association with deafness. Two families showed autosomal dominant inheritance whereas four families had only one affected generation with an excess of males. An extensive mutation screen of nine genes known to cause Charcot-Marie-Tooth was negative. Conclusions: There are late-onset forms of hereditary axonal neuropathies. The genetic causes remain unknown and genetic heterogeneity within this entity is likely. Neurology ® 2008;71:14-20 GLOSSARY AFO ϭ ankle foot orthoses; BAC ϭ bilateral arm crutches; CMAP/SNAP ϭ compound motor and sensory nerve action potentials; CMT ϭ Charcot-Marie-Tooth; CV ϭ conduction velocities; HMSN ϭ hereditary motor and sensory neuropathy; LON ϭ late-onset neuropathy. Hereditary motor and sensory neuropathy (HMSN) or the Charcot-Marie-Tooth (CMT) syndrome is one of the most common neurogenetic disorders with a prevalence of 30 cases per 100,000. The condition is highly heterogeneous. 1 Genetically it is divided into autosomal dominant, autosomal recessive, and X-linked types. Phenotypically it is traditionally divided into those types with very slow nerve conduction velocities (CV) (CMT1, demyelinating) and those with normal or near normal conduction velocities and low amplitudes (CMT2, axonal), although there is overlap between the two groups. 2,3 In CMT1 there are eventually secondary axonal changes, but amplitude of the evoked motor and sensory responses are relatively well preserved early in the disease. In CMT2 there is a decrease in the amplitudes of both the compound motor and sensory nerve action potentials (CMAP/SNAP). Genetic heterogeneity is demonstrated by mutations in more than 12 genes causing the syndrome and even more chromosomal linkage assignments. 1 For all the various types the age at onset is usually in childhood, adolescence, or young adulthood. Onset after the age of 40 years is unusual and after 50 years is highly atypical. We report here a clinical and genetic evaluation of six families
A case of hereditary sensory autonomic neuropathy type IV
Annals of Indian Academy of Neurology, 2012
soles was dry, coarse and mildly hyperkeratotic. Neurological examination revealed a generalized absence of response to temperature and painful stimuli. Touch, position, and vibration senses were intact. Tendon reflexes and plantar responses were normal. There was no cranial nerve palsy except for absent corneal reflex. Tests for autonomic function were normal. On investigation, serum uric acid levels and the nerve conduction studies (motor and sensory) were normal. A bedside sweat test using pilocarpine showed the total absence of sweating. A full-thickness skin biopsy showed normal sweat glands. Sural nerve biopsy findings were consistent with hereditary sensory autonomic neuropathy [Figure 1]. IQ assessment using Binet-Kamat test showed a normal mental development for age (IQ=97). The child was lost to follow-up and presented to us 5 years later with extensive ulcers over upper limbs and neck [Figure 2]. There was substantial loss of tissue around the lips [Figure 3]. His left lower leg was amputated for non-resolving osteomyelitis 6 months back. The boy succumbed to fulminant sepsis with shock with profound DIC and massive upper GI bleed. Discussion Neuropathy in HSAN IV involves small-caliber (A-delta and C) nerve fibers which normally transmit nociceptive inputs along sensory nerves. Sensory testing of thermal and vibratory perception is abnormal and there is absence of sweating in response to sympathetic stimulation though autonomic perturbations are mild to absent. More than 37 different
Brain, 1997
To evaluate whether chronic idiopathic axonal polyneuro-of CIAP patients. Electrophysiologically, the tibialis anterior muscle showed more denervation in patients with HMSN pathy (CIAP) should be considered as hereditary motor and sensory neuropathy type 2 (HMSN type 2), we compared the type 2, consistent with the predominance of motor symptoms. There was no important effect of age of onset on clinical clinical features of 48 patients with CIAP with those of 47 patients with HMSN type 2. In addition, we studied features in HMSN type 2 patients. We conclude that in an individual patient with a sensory or sensorimotor idiopathic electrophysiological data in 20 patients with CIAP and in 20 patients with HMSN type 2. We found, in patients with axonal polyneuropathy and no family history of polyneuropathies, the diagnosis HMSN type 2 is unlikely. However, if HMSN type 2, that the initial symptoms were predominantly motor and that weakness and handicap were more severe motor symptoms predominate, the diagnosis of HMSN type 2 should be considered. and skeletal deformities more frequent, compared with those