Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

Abstract

Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our institute with developmental delay, fever, vomiting, feeding difficulty, breathlessness and features of elevated intracranial pressure due to hydrocephalus. Key examination findings with cholestatic jaundice as an early manifestation led to suspicion of type 4 Farber disease. Observation of hydrocephalus, hypertension, bilateral pinguecula and Erlenmeyer flask deformity of the femur were unusual findings for Farber disease. The child had few features (pinguecula, Erlenmeyer flask deformity and hydrocephalus) overlapping with Gaucher disease. Alternatively, prosaposin deficiency (Farber disease type 7) was another differential diagnosis. Diagnosis of Farber disease was confirmed by detection of foamy macrophages on skin biopsy and two homozygous missense variants in ASAH1 gene.

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

“…The diseases where the findings were not previously seen in children without cholestasis were alpha-1 antitrypsin deficiency, congenital hypothyroidism, mevalonate kinase deficiency, Farber disease and hypopituitarism (Table 2A). 5,23,[47][48][49][50][51][52][53] The most frequent finding was haemorrhage seen on MRI or CT in two cases of alpha-1 antitrypsin deficiency at diagnosis with intraventricular haemorrhage in both cases while one case had intraparenchymal haemorrhage with severe oedema and the other had hydrocephalus, subdural and subarachnoid haemorrhage. 47,48 In congenital hypothyroidism, imaging before L-thyroxin treatment at age of 1-5 years showed atrophy and smoothing in gyri in one case (CT) and hyperintensity of most of the brain, suggesting demyelination in both cases (MRI).…”