Congenital hypomyelinating neuropathy.
An eleven-month-old baby born out of non-consanguineous parentage presented with history of delayed motor milestones. The weakness was predominantly distal; there was intercostal muscle weakness, generalized hypotonia and areflexia. The nerve conduction velocities were unobtainable in all the four limbs. Sural nerve biopsy was consistent with the diagnosis of congenital hypomyelinating neuropathy, a rare form of hereditary motosensory neuropathy.
Chandra
S R
SR
Department of Neurology, Medical College, Thiruvananthapuram, Kerala, India.
Kalpana
D
D
Radhakrishnan
V V
VV
Kannan
S R Srinivasa
SR
D001707:Biopsy, Needle; D003131:Combined Modality Therapy; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D007223:Infant; D009431:Neural Conduction / Q000502:physiology*; D026741:Physical Therapy Modalities / Q000379:methods; D011239:Prednisolone / Q000008:administration & dosage; D011379:Prognosis; D012720:Severity of Illness Index; D016896:Treatment Outcome
D011239:Prednisolone