Case report: double dermal sinus tracts of the cervical and thoracic spine associated with congenital intracranial pathology (hydrocephalus and an interhemispheric cyst) in a newborn patient.

INTRODUCTION: A dermal sinus tract (DST) is an uncommon type of spinal dysraphisms characterized by a tract lined with stratified squamous epithelium that extends from the subcutaneous tissue to the underlying thecal sac or neural tube. These developmental anomalies can present asymptomatically with cutaneous abnormalities or with devastating complications. Usually, it is presented as a unique lesion, and there are only a few reports that show multiple sinuses, and none of them associated with midline brain malformations. METHODS: We present the case of a 3-day-old girl with an antenatal diagnosis of hydrocephalus who was diagnosed with double dermal sinus tracts of the cervical and thoracic regions at admission. The patient presented signs of elevated intracranial pressure (ICP), which imposed a challenge in the management of the case. RESULTS: Our patient was successfully treated initially with a lumbar puncture in order to discard a cerebrospinal fluid (CSF) infection. With negative CSF cultures, a ventriculoperitoneal shunt (VPS) was placed. Nine days after the VPS surgery and without signs of infection, the DST was excised in a single procedure, without follow-up complications. CONCLUSION: To our knowledge, this is the first description of a patient with multiple midline neural tube defects (NTDs) associated with congenital intracranial pathology. Although there are no guidelines regarding the best treatment for this complex associated pathology, the patient was treated, without follow-up complications.

Senos dérmicos craneales en pediatría: presentación, diagnóstico, complicaciones y tratamiento. Experiencia de un hospital pediátrico de nivel III / Cranial dermal sinuses in pediatrics: Presentation, diagnosis, complications, and management. Experience at a tertiary care children's hospital

Introducción. El seno dérmico cefálico es un tractotubular formado por una separación incompleta entre el ectodermo neural y el ectodermo epitelial;puede tener complicaciones infecciosas. Existen reportes aislados de esta patología. Objetivo: describir una serie de pacientescon seno dérmico craneal, las formas depresentación, el diagnóstico, el tratamiento y las complicaciones. Población y métodos. Estudio observacionaldescriptivo de una serie de pacientes pediátricos con seno dérmico cefálico atendidos en unhospital pediátrico de nivel III entre 2014 y 2019. Resultados. se incluyeron 18 pacientes. La clínicade presentación fue, en 12 casos, una lesión puntual en el cuero cabelludo, hipertensiónendocraneana en 4 casos, ataxia en 1 caso y lesión puntual con fístula en 1 caso. La mitad presentó síntomas de infección. La localización fue en la línea media sobre el hueso occipital en 13 casos, en la línea media sobre el hueso frontal en 3 casos y en la línea media interparietal en 2 casos. En 5 casos se encontró asociada una imagen extracraneana y, en 11 casos, una complicación intracraneana. Ningún paciente presentó recidiva de la lesión y en todos se realizó un solo procedimiento quirúrgico. Conclusiones. Los senos dérmicos en esta serie se presentaron como lesiones puntuales en cuerocabelludo. La localización más frecuente fue a nivel occipital sobre línea media y, en más de la mitad, atravesaba el hueso. El tratamiento de elección fue la exéresis completa del seno dérmicoy las lesiones asociadas. Ante la presencia de senos dérmicos sintomáticos o asociados alesiones intracraneanas, la cirugía se realizó de urgencia.

Introduction. A cranial dermal sinus is a tubular tract resulting from the incomplete separation of the epithelial ectoderm from the neuroectoderm which may lead to infectious complicationsThere have been isolated reports of this condition. Objective. To describe a series of patients with cranial dermal sinus, its presentation, diagnosis, management, and complications. Population and methods. Observational,descriptive study of a series of pediatric patients with cranial dermal sinus treated at a tertiary care children's hospital between 2014 and 2019. Results. A total of 18 patients were included. Theclinical presentation was a specific lesion on the scalp in 12 cases, intracranial hypertension in 4, ataxia in 1, and a specific lesion with fistula tract in 1. Half of patients had symptoms of infection. The lesion was located in the midline of the occipital bone in 13 cases; in the midline of the frontal bone in 3 cases; and in the interparietal midline in 2 cases. The dermal sinus was associated with anextracranial image in 5 cases and an intracranial complication in 11 cases. No patient hadrecurrence and only one surgery was performed in all of them. Conclusions. In this series, dermal sinusespresented as specific lesions on the scalp. The most common site was the occipital midline, and more than 50% of these extended through the bone. The treatment of choice was complete resection of dermal sinus and associated lesions. An emergency surgery was performed when the dermal sinus was symptomatic or associated with intracranial lesions.

Cranial dermal sinuses in pediatrics: Presentation, diagnosis, complications, and management. Experience at a tertiary care children's hospital. / Senos dérmicos craneales en pediatría: presentación, diagnóstico, complicaciones y tratamiento. Experiencia de un hospital pediátrico de nivel III.

INTRODUCTION: A cranial dermal sinus is a tubular tract resulting from the incomplete separation of the epithelial ectoderm from the neuroectoderm which may lead to infectious complications. There have been isolated reports of this condition. OBJECTIVE: A cranial dermal sinus is a tubular tract resulting from the incomplete separation of the epithelial ectoderm from the neuroectoderm which may lead to infectious complications. There have been isolated reports of this condition. POPULATION AND METHODS: Observational, descriptive study of a series of pediatric patients with cranial dermal sinus treated at a tertiary care children's hospital between 2014 and 2019. RESULTS: Observational, descriptive study of a series of pediatric patients with cranial dermal sinus treated at a tertiary care children's hospital between 2014 and 2019. CONCLUSIONS: In this series, dermal sinuses presented as specific lesions on the scalp. The most common site was the occipital midline, and more than 50% of these extended through the bone. The treatment of choice was complete resection of dermal sinus and associated lesions. An emergency surgery was performed when the dermal sinus was symptomatic or associated with intracranial lesions.

Introducción. El seno dérmico cefálico es un tracto tubular formado por una separación incompleta entre el ectodermo neural y el ectodermo epitelial; puede tener complicaciones infecciosas. Existen reportes aislados de esta patología. OBJETIVO: describir una serie de pacientes con seno dérmico craneal, las formas de presentación, el diagnóstico, el tratamiento y las complicaciones. Población y métodos. Estudio observacional descriptivo de una serie de pacientes pediátricos con seno dérmico cefálico atendidos en un hospital pediátrico de nivel III entre 2014 y 2019. RESULTADOS: se incluyeron 18 pacientes. La clínica de presentación fue, en 12 casos, una lesión puntual en el cuero cabelludo, hipertensión endocraneana en 4 casos, ataxia en 1 caso y lesión puntual con fístula en 1 caso. La mitad presentó síntomas de infección. La localización fue en la línea media sobre el hueso occipital en 13 casos, en la línea media sobre el hueso frontal en 3 casos y en la línea media interparietal en 2 casos. En 5 casos se encontró asociada una imagen extracraneana y, en 11 casos, una complicación intracraneana. Ningún paciente presentó recidiva de la lesión y en todos se realizó un solo procedimiento quirúrgico. CONCLUSIONES: Los senos dérmicos en esta serie se presentaron como lesiones puntuales en cuero cabelludo. La localización más frecuente fue a nivel occipital sobre línea media y, en más de la mitad, atravesaba el hueso. El tratamiento de elección fue la exéresis completa del seno dérmico y las lesiones asociadas. Ante la presencia de senos dérmicos sintomáticos o asociados a lesiones intracraneanas, la cirugía se realizó de urgencia.

Marcadores cutáneos de disrafia espinal oculta: reporte de 5 casos / Skin markers of occult spinal dysraphism: report of 5 cases

Las disrafias espinales ocultas son patologías caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel y no hay exposición del tejido nervioso. El diagnóstico precoz es de gran importancia, ya que la corrección quirúrgica oportuna puede prevenir daño neurológico irreversible. Existen alteraciones cutáneas que se asocian a la presencia de disrafias espinales ocultas. Debido a que en muchos casos estos marcadores cutáneos son la única manifestación inicial de estas alteraciones, es fundamental que el pediatra esté familiarizado con ellos, para poder realizar un estudio diagnóstico y terapéutico adecuado. Dentro de los marcadores cutáneos descritos en la literatura, una combinación de dos o más alteraciones cutáneas congénitas de la línea media constituye probablemente el predictor más importante de disrafia espinal oculta. Lesiones como el lipoma de la línea media y la cola de fauno son los marcadores aislados de mayor riesgo. Actualmente las disrafias espinales ocultas cuentan con cobertura GES, por lo que todo paciente en el que se sospeche el diagnóstico, debe ser derivado a neurocirujano, quien deberá evaluarlo en un plazo máximo de tres meses.

Occult spinal dysraphism are diseases characterized by the incomplete fusion of the neural tube, where the lesion is covered by skin and there is no exposure of nerve tissue. Early diagnosis is very important, because prompt surgical correction can prevent irreversible neurological damage. There are usually skin changes associated with the presence of occult spinal dysraphism. Because in many cases these skin lesions are the only initial manifestation of the disease, it’s essential for the pediatrician to know them well, for achieving a timely and appropriate diagnosis. Among the skin markers described in the literature, a combination of two or more skin lesions of the midline is probably the best predictor of occult spinal dysraphism. Lesions such as lipoma of the midline and faun tail have the highest risk for these disorders. Occult spinal dysraphism have GES financing, so every patient in whom the diagnosis is suspected should be referred to a neurosurgeon, who will perform an evaluation within three months.

[Paraplegia as initial manifestation of tethered spinal cord. Case report]. / Paraplegia como manifestação inicial de medula presa. Relato de caso.

Tethered spinal cord (TSC) is a rare disorder; it occurs when the conus medularis is anchored to the base of the vertebral canal by thickened filum terminale cysts, lipoma and spinal dysraphia. This disorder may cause paraplegia, sensory and sphincter disturbance. We report a twenty-two months-old girl presenting with paraplegia. TSC diagnostic was confirmed by myelotomography. The patient was submitted to surgical relief of tethered filum terminale.

Hipertricosis localizada: síndrome de la cola del fauno: caso clínico y estudio de signos cutáneos de disrafismo espinal / Localized hypertrichosis: posterior column syndrome: clinical case and study of cutaneous signs of spinal dysraphism

El término disrafia espinal se refiere a un grupo de malformaciones congénitas de la columna vertebral, asociadas a falta de fusión de las estructuras embrionarias de la línea media. Existen distintos grados de intensidad de su expresión clínica, pudiendo ser evidente al nacimiento o presentarse en la forma oculta. Un gran porcentaje de pacientes tienen manifestaciones cutáneas ubicadas en la línea media, orientadoras de una patología neurológica subyacente. Se describe el caso de una paciente de sexo femenino que consultó a los 2 años de edad por una lesión ubicada en zona presacra, consistente en mácula color salmón e hipertricosis localizada desde el nacimiento. Su estudio demostró disrafia espinal y lipoma, cuya excisión quirúrgica fue oportuna, permitiendo excelente evolución y pronóstico

[High medular compression caused by neurenteric cyst. Report of a case]. / Compressão medular alta por cisto neuroentérico. Relato de caso.

The authors report the case of a child with a neuroenteric cyst compressing the high cervical spinal cord at the level of C1 to C3. The tumor was completely excised through a laminotomy with good results. The literature is revised, and the embryology, symptomatology, treatment and results are discussed.

[Lumbar dermal sinus as a cause of intramedullary and subdural abscess. Report of 2 cases]. / Seno dermoide lumbar como causa de absceso medular y subdural. Informe de dos casos.

Dermal sinus is a congenital lesion more frequently presented in the lumbar area. Produces tethering of the spinal cord and its presence increases the risk of infections of the CNS. The only treatment of those lesions should be neuro-chirurgical: the goal of the surgical procedure is to remove the lesion and to free the spinal cord from its attachment to the surrounding layers. Magnetic resonance is the ideal diagnostic procedure. We report two cases of children of ten months and one year old harboring a congenital dermal sinus complicated respectively with intramedullary and subdural abscess. Prompt surgical treatment allowed regression of the symptoms. The MR images are detailed.

Compressão medular alta por cisto neuroentérico / High medular compression caused by neurenteric cyst

The authors report the case of a child with a neuroenteric cyst compressing the high cervical spinal cord at the level of C1 to C3. The tumor was completely excised through a laminotomy with good results. The literature is revised, and the embryology, symptomatology, treatment and results are discussed.

So-called tethered cervical spinal cord.

A case is reported of the so-called Tethered Cervical Spinal Cord Syndrome presenting as multiradicular pain on an upper limb in a 45-year old woman, in whom spina bifida occulta (C6) was associated with an intramedullary lipoma, intradural fibrous adhesions and the fusion of the sixth and seventh cervical vertebrae. Surgical release of the tether was ineffective, and the patient underwent a posterior rhizotomy for pain relief. The clinical and maldevelopmental aspects of this most uncommon form of spinal cord tethering are discussed briefly.

[Tethered spinal cord syndrome: report of 2 cases]. / Síndrome da medula presa: registro de dois casos.

The tethered spinal cord syndrome is a disease that is part of the group of spinal dysraphisms, that was recently recognized as an individualized nosological entity, yet not frequently diagnosed among us. It is characterized by shortening and thickening of the filum terminale which prevents the ascent of the spinal cord into spinal canal, the conus medularis abnormally remaining in a low place. It is associated in all cases with spina bifida. The diagnosis is simple, once the disease is suspected. It is manifested by progressive motor or sensory deficit in the legs, urinary incontinence, scoliosis and leg or back pain, specially in young children. The plain lumbosacral RX always shows spina bifida. Myelography makes the diagnostic. It shows, basically, the negative image of the thickened filum terminale and the low placed conus medularis. Other exams which can help are the computerized tomography and the ultra-sound of the spinal cord. The surgical treatment is very simple and heals without sequels if done in due time. It consists in a sectioning of the filum terminale through laminectomy. Two cases diagnosed and treated at Hospital da Baleia, from Fundação Benjamin Guimarãcs, Belo Horizonte, are reported in this paper.

[Post-infectious transverse myelitis and thoracic spina bifida: report of a case]. / Mielite transversa pós-infecciosa e espinha bífida torácica: registro de um caso.

The patient, a 30 year-old man, dentist, started having an influenza-like infection which lasted five days, with malaise, muscle pain throughout the body and fever. One day before the hospital admission he presented urinary retention followed in the next day by ataxia and numbness sensation in both feet and lower third of his legs. The neurological examination disclosed a thoracic spinal cord impairment at T9-T10 level and the diagnosis of a post- infectious transverse myelitis was made. The plain Rx of the spine showed a spina bifida oculta in the T7 vertebra, which is roughly at the same level of the T9-T10 spinal cord segment. An iodinated myelography showed no abnormalities. The CSF examination showed small increase in the white cells (6.4 cells/cu.mm). The patient received dexamethasone (4. 5g /day) and two weeks later was entirely free of symptoms. The authors think that the congenital bone defect (spina bifida) might have played a role in the development of the myelitis, probably because of an ontogenetically determined "vulnerable point" ("locus minor resistentia ") at that level, either anatomical or immunological.

[Congenital pain insensitivity]. / Insensibilidad congénita al dolor.

A case showing multiple lesions that make it very illustrative is reported. Differential diagnosis is made with some other diseases that are similar in some isolated facts. Mention is also made on the pathophysiology of the disease as well as on the necessity of the intercourse of several medicosurgical specialties in the management of these patients. A brief review of the literature is made.