Diagnostic Dilemma

Hepatosplenomegaly with cherry red spot

An 8-month-old boy born of non-consanguineous marriage presented with non achievement of any milestone. He was born at full term by normal vaginal delivery and there were no antenatal or post-natal complications. He is only child of his parents. They had a previous intrauterine fetal death prior to this child. There are no seizures. On examination, he had hepatosplenomegaly. Other systems were normal. Investigations showed:
• Cherry red spot on funduscopy
• Bone marrow aspiration – No storage cells.

Why is the bone marrow normal in this child?
Expert Opinion :
Cherry red spot with hepatosplenomegaly and delayed milestones is suggestive of a storage disorder such as GM1 Gangliosidosis, GM2 Gangliosidosis, Tay Sach’s disease, Niemann Pick’s disease, Sialodosis Type 1, Other causes of cherry red spot include Farber's disease, Goldberg's disease, Gaucher's disease (infantile form), Hurler's syndrome, Mucopolysaccharidosis VII, Hallervorden Spatz syndrome, Batten-Mayou-Vogt-Spielmeyer syndrome, Spranger's disease, Cryoglobulinemia and Leber's congenital amaurosis. In newborns, hepatosplenomegaly with vacuolated lymphocytes would suggest GM 1 Gangliosidosis, Niemann Pick disease type IA or early infantile Galactosialidosis. An additional finding of coarse facies, bone changes, oedema with ascites would favor GM 1 Gangliosidosis or early Infantile Galactosialidosis; whereas, interstitial pneumonia and neurologic deterioration would suggest Niemann Pick disease type IA disease. In infancy, exaggerated startle response, hepatosplenomegaly, myoclonic jerks, hypotonia and neuroregression would suggest a diagnosis of GM2 Gangliosidosis type 1 (Tay Sachs disease) or type 2 (Sandhoff's disease), whereas hepatosplenomegaly with bone changes would favour a diagnosis of late infantile Galactosialidosis. In late childhood, blindness and progressive myoclonic jerks suggest Sialidosis (CRS Myoclonus syndrome) whereas bone changes, dysmorphism, angiokeratoma, corneal opacities and psychomotor retardation would suggest juvenile Galactosialidosis. Sometimes, bone marrow lipid storage cells will be seen over a period of time and due to initial focal changes may be normal. In such a child, a repeat bone marrow examination may be required after sometime. In such a case then enzyme estimation would be required.
Answer Discussion :
ibrahim Koroma
because of the fetal death
2 years ago
giuliana trad
Niemann-Pick Disease
The bone marrow aspiration has a low sensitivity diagnosis for the condition

2 years ago

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