Resumen de Reporte de un caso clínico de holoprosencefalia
- español
Holoprosencefalia es la no segmentación del prosencéfalo, se caracteriza por defectos en la línea media. Se presenta con hipertelorismo, nariz corta ensilladura, labio, paladar hendido, filtrum amplio, microcefalia e hidrocefalia. Crisis convulsivas y anomalías endocrinológicas. Paciente masculino, 3meses de edad, madre: G1P1A0C0 15 años. Control-prenatal: completo. Embarazo normal. A las 34 semanas se diagnostica defecto del sistema nervioso central y retardo del crecimiento-intrauterino. Parto institucional, recién nacido pretérmino, 36 semanas, peso: 1900g. Cianótico, no llanto, requirió oxígeno. Se hospitaliza por 12 días, ecografía y TAC cerebral: holoprosencefalia, sin hipertensión-endocraneana. Al mes, se hospitaliza por síndrome-convulsivo, neumonía, síndrome coqueluchoide, se sigue por consulta externa, paciente con fiebre ínter-diaria y episodios convulsivos durante un mes. Se hospitaliza, al ingreso tres episodios convulsivos tónico–clónico-generalizados, irritable, hipertelorismo ocular, nariz de puente bajo ancho, labio y paladar hendido, hernia umbilical, hernia inguinoescrotal y micropene. Hipertonia, retardo del desarrollo psicomotor. Punción lumbar, resultado: meningitis bacteriana se inicia manejo antibiótico. Posteriormente dificultad respiratoria severa, roncus, siblilancias, posible broncoaspiración. Electrolitos: Na: 155.3 K:5.95 Cl:121, problemas de cortisol y Panhipopituitarismo, inicia reemplazo hormonal. Neurología refiere agenesia cerebral reacciones con tallo cerebral y cerebelo, mal pronóstico, hace paro-cardiorrespiratorio maniobras de reanimación cardiopulmonar, continúa en mal estado general, periodos de apnea, baja saturación, expansibilidad torácica disminuida. Hace 3 paros cardiorrespiratorios, en el tercero no hay respuesta. Fallece. La Holoprosencefalia es un defecto del SNC ligado a mal pronóstico. En este caso, el paciente reaccionaba con tallo-cerebral y cerebelo, además panhipopituitarismo alteraciones hormonales y meningitis bacteriana que complicó más el cuadro.
- English
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.
