Niemann-pick disease type a presenting as unilateral tremors

Indian Pediatrics

Volumn 49, Issue 11, 2012, Pages 919-920

  Vykuntaraju, K N ^a   Lokanatha, Hemalatha ^a   Shivananda, ^a  

^a INDIRA GANDHI INSTITUTE OF CHILD HEALTH   (India)

Author keywords

Cherry red spot; Niemann Pick disease type A; Unilateral tremors

Indexed keywords

HEMOGLOBIN; SPHINGOMYELIN PHOSPHODIESTERASE;

ABDOMINAL RADIOGRAPHY; ANXIETY DISORDER; ARTICLE; ATAXIA; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE DURATION; DISEASE SEVERITY; ECHOGRAPHY; ELECTROLYTE BLOOD LEVEL; ENZYME ACTIVITY; EYE MALFORMATION; EYEBALL DEVIATION; FEMALE; HEMOGLOBIN BLOOD LEVEL; HEPATOMEGALY; HUMAN; HUMAN TISSUE; INFANT; KIDNEY FUNCTION TEST; LEUKOCYTE; LEUKOCYTE COUNT; LIMB TREMOR; LIPID BLOOD LEVEL; LIVER FUNCTION TEST; MESENTERY LYMPH NODE; MOTOR DYSFUNCTION; MUSCLE RIGIDITY; MUSCLE WEAKNESS; NEUROIMAGING; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PROMINENT TONGUE; SPLENOMEGALY; STARTLE REFLEX; THROMBOCYTE COUNT; TONGUE DISEASE; TONGUE TREMOR; TREMOR; UNILATERAL TREMOR; VAGINAL DELIVERY;

FEMALE; HUMANS; INFANT; NIEMANN-PICK DISEASE, TYPE A; PARESIS; TREMOR;

EID: 84874410093     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: 10.1007/s13312-012-0196-0     Document Type: Article

References (3)

1. Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients. Medicine. 1958; 37:1-95.
2. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase- deficient Niemann-Pick disease. J Inherit Metab Dis. 2007; 30:654-663.
3. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006;66:228-232.