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Case Report

Indian Pediatr 2012;49: 919-920

Niemann-Pick Disease Type A Presenting as Unilateral Tremors


Vykuntaraju KN, *Hemalatha Lokanatha and #Shivananda

From the Division of Pediatric Neurology, *Department of Pathology and #Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka.

Correspondence to: Dr Vykunta Raju KN, #141, 7TH "C" Main, RPC Layout, Hampinagar, Vijayanagar,
Bangalore 560 040, Karnataka.
Email: [email protected]

Received: April 04, 2012;
Initial review: May 03, 2012;
Accepted: June 22, 2012.



Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.

Key words: Cherry red spot, Niemann-Pick disease type A, Unilateral tremors.


Niemann-Pick disease is a heterogeneous group of autosomal recessive lysosomal lipid storage disorders, characterized by hepatosplenomegaly and sphingomyelin storage in reticuloendothelial and parenchymal tissues, with or without neurological involvement [1].

Case Report

We report a 9-month-old girl born to a second degree consanguineously married couple at term by normal delivery. She presented with tremors of the tongue and tremors of right upper and lower limbs of 35 days duration, followed by shaking of head and trunk of 20 days duration. Parents noticed paucity of movements of right upper and lower limbs since the onset of shaking. Child has also lost acquired milestones. She used to sit with support, transfer objects from one hand to other, attained stranger anxiety, used to respond for calling her name, and used to speak bisyllables. After the onset of tremors child lost head control, sitting, holding objects and social smile. Child had exaggerated startle response.

On examination, child’s weight, length and head circumference were within normal limits. There was protrusion of tongue, upward deviation of eyeballs and rigidity with weakness of right upper and lower limbs. Resting tremors of the tongue, right upper and lower limbs were present. Head titubation and truncal ataxia were noted. Cherry red spot was not present. Liver was palpable 4 cm below the right costal margin and span of 8 cm with firm consistency. Spleen was palpable 4 cm below the costal margin and was firm in consistency.

Investigations showed, hemoglobin - 9.9 g/dL, total leucocyte count - 2400 cells/µL, platelets -2,43,000/µL. Liver functions, renal functions, serum electrolytes and lipid profile were normal. Ultrasonography of abdomen shows moderately enlarged liver and spleen with normal echo-texture, and multiple mesenteric lymph nodes. Bone marrow aspiration showed normocellular marrow, with storage cells suggestive of Niemann-Pick disease. MRI of brain was not done as bone marrow aspiration was suggestive of Niemann-Pick cells. Acid sphingo-myelinase activity in leucocytes showed less than 10% of mean normal activity.

Discussion

Niemann-Pick disease type A initially presents with non-neurological manifestations. The first symptom is hepatosplenomegaly, usually noted by the age of three months; over time the liver and spleen become massive [2]. Usually neurological examination at the time of presentation can be normal. Psychomotor development progresses no further than 12-month level, after which neurological deterioration is relentless. The neurological findings can include cerebellar signs, nystagmus, extra pyramidal involvement, intellectual disability, and psychiatric disorders [2]. A classic cherry-red spot, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease results in frequent respiratory infections and often respiratory failure can be present. Most children succumb before the third year.

This child presented for the first time with neurological features in the form of tremors of one side of the body followed by weakness of same side, with regression of milestones. Neurologically, child had rigidity of right side with tremors of tongue and right half of the body with weakness. Initially we suspected space occupying lesion in the brain, as child had predominant unilateral signs. Investigations shows decreased total counts with mesenteric lymph nodes with hepato-splenomegaly on ultrasonography of abdomen. CT scan of brain was normal. Bone marrow examination shows classic Niemann-Pick cells. Acid sphingomyelinase assay confirms our diagnosis of Niemann-Pick disease Type A. Prenatal diagnosis can be made by assay of acid sphingomyelinase activity in cultured chorionic villi or amniocytes [3].

Unilateral involvement with tremors in the initial stage, absence of cherry red spot despite neurological involvement, absence of lung involvement are unusual presentations. There is no literature available on this kind of unusual presentation.

Contributors: All authors were involved in all aspects of manuscript preparation.

Conflict of interest: None.

References

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; 30:654-63.

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;66:228-32.

 

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