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Abstract

RELATO DO CASODermatological examination of a male child, 2 years and 10 months old, revealed brownish macules (some keratosic and interspersed with hypopigmented patches) on the the face and with bleeding papulo-erythematous lesions on the upper lip, together with pinpoint hyperchromic, reddish-brown macular lesions on the abdomen and limbs (Figures 1 and 2). Clinical examination showed significant retardation of growth and development, microcephaly, generalized hypotonia with hyporeflexia, photophobia, hypogonadism and abdominal distension. Head circumference 38.5 cm, chest 38 cm and abdomen 40 cm (Figures 2 and 3). Seizures experienced since birth. Anato-pathological exam of lip lesion showed pyogenic granuloma. Cranial CT scan showed right-sided open-lip schizencephaly, periventricular calcifications, absence of septum pellucidum and dilatation of the lateral ventricles. A brain MRI showed supratential dilatation, schizencephaly, agenesis of the septum pellucidum and septo-optic dysplasia. Ophthalmologic evaluation: positive and symmetric red reflex, poor response to light and changes in pupillary reflexes. Normal ECG and echocardiogram. Normal karyotype, 46XY. Upper GI endoscopy: sliding hiatal hernia. USG of the scrotum did not find the testicles and epididymis. No ectopic testis. Serology for HIV, herpes, toxoplasmosis and cytomegalovirus (CMV) negative. The clinical and laboratory tests were compatible with the DeSanctis-Cacchione syndrome.