A 35-year-old female with growth and developmental retardation, progressive ataxia, dementia and visual loss

Abstract

This female patient was born to healthy parents who were first cousins. Her elder brother and two paternal uncles had a disorder similar to hers. She began to walk at the age of 1 years and 6 months. During childhood, she was physically small and mentally retarded. To receive special education, she went to school on foot. Gait ataxia appeared at the age of 19 years, and gradually worsened thereafter. When she was 31 years of age, she became unable to walk unsupported. She showed progressive loss of vision and hearing, spoke fewer words than previously, and complained of fear and insomnia. At the age of 32 years, she was institutionalized at a facility for the severely handicapped. On admission, she showed dwarfism (113 cm in height), emaciation (18 kg in weight) and pigmentation of the skin. Her head was small and her face showed a senile-like appearance with sunken eyes, cataract and malpositioned teeth. Neurological examination disclosed severe impairment of hearing and vision, dysarthria, muscle hypertonia, truncal and limb ataxia, spontaneous extension of the toes, and emotional instability. Her mental age was between 1 and 3 years. Laboratory examination showed hyperuricemia and slow conduction velocity of the peripheral nerves. Ultrasonography of the abdomen demonstrated thinning of the renal cortex. Computed tomography of her head showed diffuse cerebral atrophy, ventriculomegaly, and symmetrical calcification of the basal ganglia and cerebellar medulla (Fig. 1). On magnetic resonance imaging, the calcified lesions showed T1and T2-shortening. The cerebral white matter was atrophic and showed patchy T1and T2elongation (Fig. 1). At the age of 34 years, restlessness and anxiety worsened. She refused to eat, had epileptic attacks, and underwent hydration and medication with neuroleptic, hypnotic and antiepileptic drugs. Several months later, she became somnolent and developed fever, vomiting and hypertension, followed by coma, muscle rigidity and abnormal respiration. A high serum level of creatine kinase suggested a diagnosis of neuroleptic malignant syndrome. After approximately a week, she died at the age of 35 years.