Congenital Hypomyelinating Neuropathy

Indian Pediatrics

Volumn 40, Issue 11, 2003, Pages 1084-1087

  Chandra, S R ^a   Kalpana, D ^a   Radhakrishnan, V V ^a   Kannan, S R Srinivasa ^a  

^a GOVERNMENT MEDICAL COLLEGE   (India)

Author keywords

Congenital hypomyelinating neuropathy

Indexed keywords

MUSCLE ENZYME; PREDNISOLONE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HYPOMYELINATING NEUROPATHY; DIAGNOSTIC PROCEDURE; GASTROCNEMIUS MUSCLE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; LABORATORY TEST; LIMB MALFORMATION; MALE; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DENERVATION; MUSCLE WEAKNESS; MYELINATION; NERVE BIOPSY; NERVE POTENTIAL; NEUROPATHY; PHYSIOTHERAPY; PNEUMONIA; SURAL NERVE; TACHYPNEA;

BIOPSY, NEEDLE; COMBINED MODALITY THERAPY; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; IMMUNOHISTOCHEMISTRY; INDIA; INFANT; NEURAL CONDUCTION; PHYSICAL THERAPY MODALITIES; PREDNISOLONE; PROGNOSIS; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 0345255141     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Warner LE, Garcia CA, Lupski JR. Herediatry peripheral neuropathies: clinical forms, genetics and molecular mechanisms. Ann Rev Med 1999; 50: 263-275.
2. Harati Y, Butler IJ. Congenital hypomyelinating neuropathy. J Neurol Neurosurg Psychiatry 1985; 48: 1269-1276.
3. Kennedy WR, Sung JH, Berry JF. A case of congenital hypomyelination neuropathy: Clinical, morphological and chemical studies. Arch Neurol 1977; 34: 337-345.
4. Hakamada S, Kumugai T, Hara K, Miyazaki S, Miyazaki K, Watanabe K. Congenital hypomyelinating neuropathy in a newborn. Neuropediatrics 1983; 14: 182-183.
5. Charnas L, Trapp B, Griffin J. Congenital absence of peripheral myelin. Neurology 1988; 38: 966-974.
6. Towfighi J. Congenital hypomyelination neuropathy: Gial bundles in cranial and spinal nerve roots. Ann Neurol 1981; 10: 570-573.
7. Phillips JP, Warner LE, Lupski JR, Garg BP. Congenital hypomyelinating neuropathy, two patients on long term follow up. Pediatr Neurol 1999; 20: 226-232.
8. Mankidi P, Mancardi GL, Varese A, Soriani S, DiMaria E, Bellone E et al. Congenital hypomyelination due to myelin protein zero Q 215 x mutation: Ann Neurol 1999; 45: 676-678.
9. Sarnat HB. Neuromuscular disorders. In: Behrman RE, Klieigman MR, Jenson BH, editors. Nelson Textbook of Pediatrics: 16th edition, USA W.B. Saunders Company, p. 1889-1890.
10. Levy BK, Fenton GA, Loaiza S, Hayat GR. Unexpected recovery in a newborn with severe hypomyelinating neuropathy. Pediatr Neurol 1997; 16: 245-248.