Severe Hydrocephalus, Kidney and Skeletal Anomalies in a Female Patient with Mild Neurological Alterations

INTRODUCTIONThe incidence of neonatal hydrocephalus in developing countries has been estimated in 3-5 cases per 1000 live births (8) and the imaging classification ranges from mild to extreme according to the ventricular/ biparietal (V/BP) ratio (considered normal less than 0.26) (1). Severe hydrocephalus is diagnosed with a V/BP ratio of 0.61-0.90 and this presents as a condition where a high proportion of cerebral hemispheres are replaced by cerebrospinal fluid, though, unlike hydranencephaly, the cases of severe or extreme hydrocephalus present a uniform rib or cortical remnant, although in occasions this is imperceptible (in extreme hydrocephalus) (1,6). Another hallmark that differentiates these conditions is the internal carotid arteries occlusion, which is absent in hydrocephalus but present in hydranencephaly (2, 7). The symptoms observed in hydrocephalus are widely varied, depending of the degree of cerebral compression, ranging from normal to severely retarded with spastic quadriplegia (3). In this report we present a longterm survival of a patient with severe hydrocephalus and normal intellectual development who in addition presented kidney ectopia and skeletal alterations.CASE REPORTThe female patient was the product of the first pregnancy of apparently healthy parents with the familial history of migraine in both parental branches and a maternal uncle who died by hypoplastic kidneys at 20 years old; she has an apparently healthy younger sister and no other family members presented similar features. She was obtained by cesarean section due to fetal distress and presented a birth weight of 3,500 gr. Her psychomotor development was under normal ranges, she spoke at 15 months and had a potty training at 3 years old. The school performance was satisfactory.The patient was referred to the genetic service at 4 years old when she was hospitalized by an urinary tract infection; there the presence of macrocephaly was observed and a computerized tomography (CT) revealed severe hydrocephalus; nevertheless, the diagnosis was initially mistaken by hydranencephaly and therefore the patient was derived by second time to the neurologist until 12 years old when she suffered from migraine and seizures. At 8 years old, myopia and astigmatism were diagnosed and treated with glasses. At 13 years old, the CT revealed a cerebral mantle