A Rare Case of Early Infantile Neuronal Ceroid Lipofuscinosis: Clinical and Diagnostic Insights

The Aim of the Study: The aim of this work is to show the different specific clinical and paraclinical aspects of ceroid lipofuscinosis in its early infantile form named Santavuori-Haltia disease through a new case.Given its rarety especially in consanguineous populations for better understanding the clinical presentation,progression and management of the disease.

Introduction: The neuronal ceroid lipofuscinoses are a group of genetic brain diseases with an autosomal recessive manner characterized by the accumulation of an autofluorescent material in multiple tissues of patients.

Clinically, they are progressive decline of mental and motor capacities, epilepsy and visual loss through retinal degeneration . In this work we report the early infantile neuronal ceroid lipofuscinosis or Santavuori-Haltia disease.

Report Case: This is a 12-month-old infant from consanguineous parents who has presented with flexion spasms with eyelid clonia since the age of 1 month. The examination found microcephaly, and the neurological examination showed horizontal nystagmus with the absence of ocular pursuit and the presence of a pyramidal and extrapyramidal syndrome. Brain MRI shows delayed myelination. Skin biopsy confirms diagnosis. The Arg122Trp genetic mutation found is the most common one in this disease.

Conclusion: Santaviori-Haltia disease is a rare and serious disease, the prognosis is severe, it must be mentioned in the face of psychomotor regression and a picture of encephalopathy. Confirmation of the diagnosis is based on histological and molecular biology data.