Reporte de un caso clínico de holoprosencefalia

Abstract

Holoprosencephaly (HPE) occurs when the prosencephalon fails to cleave. It is characterized by defects along the medial line such as hypotelorism, a short nose, cleft lip and/or palate, a wide philtrum, microcephaly and hydrocephalus. Male patient: 3 months old with convulsions and endocronological anomalies. Mother: 15 years old with G1P1A0C0. Complete prenatal control, normal pregnancy. At 34 weeks, a Central Nervous System defect and intrauterine growth retardation were diagnosed. Preterm hospital birth at 36 weeks, weight 1900gr, cyanotic, required oxygen; didn’t cry. Newborn is hospitalized for 12 days. Ultrasound and cerebral CAT indicate HPE without endocraneal hypertension. One month after birth, the patient is hospitalized due to convulsions, pneumonia, coqueluchoide syndrome; followed by external patient care for one month becuase of convulsions and daily fever. After hospitalization, the patient has three tonic clonic seizures, is irritable; has hypotelorism, wide, short nose bridge, cleft lip and palate, umbilical hernia, inguinoescrotal hernia, micropenis, hypertonia, delay in psychomotor development. Lumbar puncture resulted in Bacterial Meningitis. Antibiotic treatment is begun. Later, he develops severe respiratory difficulties with rhonchi and wheezing, and possibly broncoaspiration. Electrolytes: Na: 155.3 K:5.95 Cl:121; problems with cortisol and panhypopituitarism. Hormone replacement begins. Neurology reports cerebral agenesis in brainstem and cerebellum. Poor prognosis. Has cardiopulmonary arrest and resuscitation is performed; continues in poor general condition with periods of apnea, low saturation, diminished thoracic expansion. Patient has 3 cardiopulmonary arrests; there is no response to resuscitation after the third one. Patient dies. Holoprosencephaly is a Central Nervous System defect that is associated to poor prognosis. In this case, the patient’s brainstem and cerebellum were affected. Additionally, there was panhypopituitarism, hormonal alterations, and bacterial meningitis which made the case more complicated.