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PubMed · 14660842

Congenital hypomyelinating neuropathy.

S R Chandra·D Kalpana·V V Radhakrishnan·S R Srinivasa Kannan
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Abstract

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.

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Biopsy, NeedleCombined Modality TherapyFemaleHereditary Sensory and Motor NeuropathyHumansImmunohistochemistryIndiaInfantNeural ConductionPhysical Therapy ModalitiesPrednisolonePrognosisSeverity of Illness IndexTreatment OutcomeCase ReportsJournal Article

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S R Chandra, D Kalpana, V V Radhakrishnan, S R Srinivasa Kannan. 2003. Congenital hypomyelinating neuropathy.. https://pubmed.ncbi.nlm.nih.gov/14660842/

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Biopsy, Needle↗