Gangliosidosis: Diagnosis and Management Challenges

Introduction: Gangliosidosis is an autosomal recessive lysosomal storage disease, expressed by excessive accumulation of gangliosides in central nervous system and reticulo-histiocytar tissue, caused by lysosomal hydrolysis deficiency.

Objectives: Gangliosidosis is a pathology that affects both neurologic and physical development with progressing regression, involving severe complication and unfavorable prognosis, requiring multidisciplinary collaboration for management and therapeutic attitude.

Case report: We present the case of a male patient aged 18 months, admitted to the Pediatric Neurology Clinic "Alexandru Obregia "for global developmental delay including cognitive and motor regression. He had multiple intercurrent respiratory infections during the first months of life, and at the age of 5 months was admitted in “Grigore Alexandrescu Children`s Emergency Hospital”, and at abdominal examination hepatomegaly was reported. After excluding other causes, giving the evidence of the medical history, the lysosomal enzyme activity was measured, highlighting the low value of betagalactosidase. After discharge of the hospital, the child had multiple admissions for respiratory intercurrences, presenting also cognitive and motor regression. Upon admission to the neurology clinic, the child was athrepsic, with dysmorphic features, generalized telengiectasis, proeminent abdomen, hepatomegaly, severe developmental disorder, generalized hypotonia, development level below 3 months of age. The ophthalmologic examination revealed the appearance of cherry red-spot. Cardiac ultrasound has not shown any changes at that time. Repeating enzyme dosing revealed low activity of betagalactosidase, which associated with clinical and paraclinic signs confirmed suspected gangliosidosis - most likely type I. In the following month the child presented cardiomyopathy requiring admission in teritorrial unit.

Conclusion: Gangliosidosis is one of the rare causes of global development disorder with regression in the first two years of life. Diagnosis is a challenge, requiring multidisciplinary collaboration. Prognosis is unfavorable because of the associated complications, with no curative treatment so far, life expectancy usually is only two years in type I gangliosidosis.