We present the case of a male term neonate with no family history of interest, who had an uncomplicated birth and an Apgar score of 9–10. He was the second-born child of nonconsanguineous parents. There was no previous history of miscarriage or abnormalities in prenatal care tests.
The salient findings of the physical examination were a dry, erythematous skin with desquamation and diffuse petechiae (Figs. 1 and 2) associated with hypotrophic appearance, jaundice and weak sucking.
The patient was admitted to the intensive care unit, with subsequent detection of coagulopathy, cholestasis and persistent thrombocytopenia despite multiple transfusions. The results of cultures and serological tests were negative. The peripheral blood smear examination revealed the presence of vacuolated lymphocytes. The postnatal radiograph and ultrasound examinations detected hepatosplenomegaly (Fig. 3).
Ichthyosis associated with a genetic disorder was suspected, and the differential diagnosis included foetal Gaucher disease, Chanarin-Dorfman syndrome and NISCH syndrome. The enzyme test for Gaucher disease ordered on day 8 post birth evinced the absence of glucocerebrosidase. The evaluation continued with an ichthyosis panel, adding molecular tests for Gaucher disease and NISCH syndrome. This resulted in the detection of two heterozygous variants of the GBA gene (p.Pro430Leu and p.Leu483Pro, which were present in the parents). The patient died 2 months later during a respiratory infection.
Foetal Gaucher disease1 has an incidence of less than 1 case per 106 live births and a prevalence of nearly zero on account of the lack of effective treatment, early mortality and forms of disease leading to miscarriage or hydrops fetalis. In the rest of cases, it is associated with hepatosplenomegaly and sustained cytopenia and may present as an ichthyosiform syndrome.2
It is caused by changes in the GBA gene (1q21), resulting in glucocerebrosidase deficiency. Forms associated with the p.Leu483Pro variant have a poorer prognosis.3
Awareness of the association between thrombocytopenia and ichthyosis is important in order to diagnose affected patients and provide genetic counselling to families.
