Leah Ferrante - Academia.edu (original) (raw)
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Papers by Leah Ferrante
Neurology Genetics, 2020
ObjectiveTo demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause ... more ObjectiveTo demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause a neurodevelopmental disorder with leukoencephalopathy resembling Pelizaeus-Merzbacher disease (PMD).MethodsA retrospective chart review was performed of 2 unrelated males evaluated at a single institution with de novo EIF2AK2 SNVs identified by clinical exome sequencing (ES). Clinical and radiographic data were reviewed and summarized.ResultsBoth individuals presented in the first year of life with concern for seizures and developmental delay. Common clinical findings included horizontal and/or pendular nystagmus during infancy, axial hypotonia, appendicular hypertonia, spasticity, and episodic neurologic regression with febrile viral illnesses. MRI of the brain demonstrated severely delayed myelination in infancy. A hypomyelinating pattern was confirmed on serial imaging at age 4 years for proband 1. In proband 2, repeat imaging at age 13 months confirmed persistent delayed myelination...
West Virginia Medical Journal, 2016
This is a case of Metronidazole induced encephalopathy (MIE) in a 69 year old male patient with c... more This is a case of Metronidazole induced encephalopathy (MIE) in a 69 year old male patient with cirrhosis treated for a brain abscess. He presented with characteristic neurologic findings and T2 hyperintensity of the dentate nuclei on MR imaging after receiving a total of 35g. After Metronidazole cessation with subsequent symptomatic improvement, the patient was discharged. This case is consistent with other studies that suggest cirrhosis may be a risk factor for MIE. The case includes characteristic imaging findings before, during, and after Metronidazole treatment that may help clinicians narrow and focus diagnosis in the appropriate clinical setting.
Neurology Genetics, 2020
ObjectiveTo demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause ... more ObjectiveTo demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause a neurodevelopmental disorder with leukoencephalopathy resembling Pelizaeus-Merzbacher disease (PMD).MethodsA retrospective chart review was performed of 2 unrelated males evaluated at a single institution with de novo EIF2AK2 SNVs identified by clinical exome sequencing (ES). Clinical and radiographic data were reviewed and summarized.ResultsBoth individuals presented in the first year of life with concern for seizures and developmental delay. Common clinical findings included horizontal and/or pendular nystagmus during infancy, axial hypotonia, appendicular hypertonia, spasticity, and episodic neurologic regression with febrile viral illnesses. MRI of the brain demonstrated severely delayed myelination in infancy. A hypomyelinating pattern was confirmed on serial imaging at age 4 years for proband 1. In proband 2, repeat imaging at age 13 months confirmed persistent delayed myelination...
West Virginia Medical Journal, 2016
This is a case of Metronidazole induced encephalopathy (MIE) in a 69 year old male patient with c... more This is a case of Metronidazole induced encephalopathy (MIE) in a 69 year old male patient with cirrhosis treated for a brain abscess. He presented with characteristic neurologic findings and T2 hyperintensity of the dentate nuclei on MR imaging after receiving a total of 35g. After Metronidazole cessation with subsequent symptomatic improvement, the patient was discharged. This case is consistent with other studies that suggest cirrhosis may be a risk factor for MIE. The case includes characteristic imaging findings before, during, and after Metronidazole treatment that may help clinicians narrow and focus diagnosis in the appropriate clinical setting.