A four-month-old boy was admitted due to vomiting, diarrhea and severe height-related delay.
The patient presented with hypotonia, bilateral convergent strabismus, and psychosis.
Healthy non-consanguineous bitches, normal pregnancy and delivery
After one month of life, the patient had poor intake, failure to thrive and vomiting. Abdominal ultrasound, transfontanellar ultrasound, chest X-ray, blood tests and urine tests were normal.
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At admission, rotavirus was detected in faeces.
After the acute process was resolved, nutritional support was initiated with artificial formula of protein hydrolyzed; subsequently, it was changed to elemental because it continued to present poor gain.
The study detected decreased hypertransaminemia, hypoalbuminemia, transferrin and ceruloplasmin, with normal serology of hepatotropic virus and echocardiography.
Due to the suspicion of a possible inborn error of metabolism (IEM), a metabolic study is requested, while the patient needs to be admitted to the Intensive Care Unit due to the onset of symptoms compatible with sepsis (fever, hypoglycemia, malaise).
A cranial MRI showed cerebellar hypoplasia.
The result of the metabolic study confirms a congenital defect of glycosylation protein (CGD) type Ia.
