RESUMO
BACKGROUND AND IMPORTANCE: Moyamoya syndrome causes progressive stenosis of intracranial internal carotid arteries and may be associated with genetic disorders like Down's or Turner's syndromes. We treated a male pseudohermaphrodite patient with congenital adrenal hyperplasia (CAH) with clinical and radiological features of moyamoya vasculopathy. To our knowledge, this association has not been reported. CLINICAL PRESENTATION: The 42-year-old patient presented with an intraventicular bleed. Cerebral angiography revealed moyamoya vasculopathy. He was hypertensive and had primary amenorrhea. Secondary sexual characteristics were poorly developed and he had ambiguous genitalia. Breast development was Tanner stage 3. Investigation revealed hypokalemia. With primary amenorrhea, persistent hypokalemia, hypertension and ambiguous genitalia, CAH was considered as a possibility and confirmed on hormone profile. Karyotyping revealed 46XY pattern. Abdominal ultrasound revealed hyperplasia of the adrenal glands, absent uterus and ovaries and ectopic testicles in inguinal canals. He was put on steroids and his blood pressure controlled. CONCLUSIONS: To the best of our knowledge we report the first case of moyamoya syndrome occurring in association with CAH.
Assuntos
Hiperplasia Suprarrenal Congênita , Transtornos do Desenvolvimento Sexual , Hipertensão , Hipopotassemia , Doença de Moyamoya , Feminino , Humanos , Masculino , Adulto , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Doença de Moyamoya/complicações , Doença de Moyamoya/diagnóstico por imagem , Amenorreia , Hipopotassemia/complicações , Transtornos do Desenvolvimento Sexual/complicações , Hipertensão/complicaçõesRESUMO
BACKGROUND: Garcin's syndrome in its complete form is very rare, and hence, this case is reported. CASE DESCRIPTION: A 45-year-old patient presented to us with proptosis of the right eye and progressive weakness of all cranial nerves on the right side without associated features of raised intracranial pressure or long tract dysfunction. He had a bulge in the right buccolabial fold, from which fine needle aspiration cytology was done. Cytology report came as a poorly differentiated carcinoma. CONCLUSIONS: Garcin's syndrome is a very rare neurosurgical entity. The course of the condition depends on the nature of underlying pathology.