Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

RESUMOJUSTIFICATIVA E OBJETIVOS: Apenas alguns relatos na literatura mencionaram a possibilidade de formação de hematoma subdural craniano associada à punção durante a raquianestesia ou anestesia epidural. O presente relato descreve um caso tão raro que foi diagnosticado como hematoma subdural agudo após anestesia combinada raqui-peridural usada em parto.RELATO DE CASO: Paciente primípara, 34 anos, com 38 semanas de gestação, submetida à cesariana sob anestesia combinada raqui-peridural, deu à luz um menino saudável. Após 32 horas do parto, a dor de cabeça moderada da paciente progrediu para dor de cabeça intensa associada a náusea e vômito e se complicou subsequentemente com crise convulsiva generalizada tônico-clônica e consequente letargia. Tomografia computadorizada do cérebro revelou hematoma subdural agudo do lado direito em região frontotemporoparietal (FTP) com edema cerebral difuso. A paciente foi submetida à craniotomia FTP de urgência e evacuação do hematoma. Tomografia computadorizada do crânio no pós-operatório precoce mostrou um sítio operatório limpo. Oito dias após a cirurgia do hematoma subdural, a paciente voltou a ficar letárgica e, dessa vez, a tomografia computadorizada revelou um hematoma extradural sob o retalho ósseo que exigiu outra cirurgia. Dois dias depois, a paciente recebeu alta hospitalar com classificação de desempenho Karnofsky de 90/100. Ao exame de acompanhamento, a paciente apresentou-se neurologicamente intacta e sua tomografia computadorizada e ressonância magnética estavam normais.CONCLUSÃO: Ao usar a anestesia combinada raqui-peridural deve-se ter em mente que dor de cabeça nem sempre significa dor de cabeça hipotensiva associada à raquianestesia e que uma complicação catastrófica de hematoma subdural também pode ocorrer.

ABSTRACTBACKGROUND AND OBJECTIVES: Only few reports in literature have pointed out to the possibility of a cranial subdural haematoma formation associated with dural puncture during spinal or epidural analgesia. We herein describe such a rare case who was diagnosed to have acute subdural haematoma after combined spinal-epidural anaesthesia used in labour.CASE REPORT: A 34-year-old, primigravid women with a gestation of 38 weeks underwent caesarean section under combined spinal-epidural anaesthesia and gave birth to a healthy boy. Thirty-two hours after delivery, her moderate headache progressed to a severe headache associated with nausea and vomiting and later was more complicated with a generalized tonic-clonic seizure and ensuing lethargy. Computed tomography of the brain demonstrated a right-sided fronto-temporo-parietal acute subdural haematoma with diffuse cerebral oedema. She underwent urgent FTP craniotomy and evacuation of the haematoma. Early postoperative cranial computed tomography showed a clean operative site. Eight days after subdural haematoma surgery, she became lethargic again, and this time cranial computed tomography disclosed an extradural haematoma under the bone flap for which she had to undergo surgery again. Two days later, she was discharged home with Karnofsky performance score of 90/100. At follow-up exam, she was neurologically intact and her cranial computed tomography and magnetic resonance were normal.CONCLUSIONS: As conclusion, with the use of this combined spinal-epidural anaesthesia, it should be kept in mind that headache does not always mean low pressure headache associated with spinal anaesthesia and that a catastrophic complication of subdural haematoma may also occur.