In this six-member family, the first son displayed paranoid type of schizophrenia and the third and fourth sons displayed Gaucher's disease type 1, non-neuronopathic.
The 23-year-old first son's symptoms, manifested from January 2003 for a period of 5 months. He reported a loss of interest for work, depression of moderate intensity and social withdrawal. In June 2003, he presented with an acute psychotic episode with delusional ideas of control of affect and auditory hallucinations in the form of voices in the third person, depreciatory for the patient. He also had interruptions in the flow of thought, with speech inconsistency, psychomotor excitation and aggressive behaviour directed towards members of his family. No physical illness or illicit substance use were detected. The brain neuroimaging examinations (CT and MRI) were normal. During his psychiatric hospitalisation, he was put on 8 mg risperidone and 4 mg biperiden per day. Psychomotor excitation and aggressive behaviour were ameliorated. However, the delusional ideas and the auditory hallucinations, as well as the disordered thinking, remained. On September 2003, he displayed extrapyramidal symptoms and unexpectedly severe symptoms resembling to tardive dyskinesia. His medication was changed to olanzapine, 10 mg daily, which contributed to the considerable amelioration of these side effects. He was negative for Gaucher's disease on examination.
The 12-year-old brother had been hospitalised for unspecified feverish disease lasting for weeks when he was 9 (2 years before displaying Gaucher's disease), and there were frequent infections in his clinical background. During the clinical and laboratorial examination, cytopenia and splenomegaly were diagnosed. A bone marrow examination showed Gaucher's disease. More detailed tests and general neurological, laboratorial and clinical examinations showed no neurological dysfunction. The final diagnose was Gaucher's disease, type 1, non-neuronopathic. Since that time, he has been under medication with intravenous infusions of glucocerebrosidase. The spleen size has become normal and the cytopenia improved. No other physical or psychiatric disease has been found.
After the diagnosis of Gaucher's disease was made for the patient, the whole family was submitted to special tests for this disease. The control test was negative for the whole family, except the patient's 17-year-old brother. The bone marrow examination for the Gaucher's disease was positive in this case, while inflation in both sides of the knees was observed on clinical examination. There was no neurological involvement, not any other physical or psychiatric disease. Since that time, he has undergone medical treatment with infusion of glucocerebrosidase intravenously each week. No other member of the family suffers from Gaucher's disease or schizophrenia. In fact, the psychiatric examination did not reveal any other psychiatric illness for any other member of the family.
The medical examination did not reveal any other morbidity in any member of the family.