Acondroplasia e suas implicações neurocirúrgicas em uma série de casos pediátricos / Achondroplasia and its neurosurgical implications in a series of pediatric cases

Introdução: A acondroplasia é causada por uma mutação no gene FGFR3 , sendo uma das formas mais comuns de displasia esquelética. Sua incidência é de 1 a cada 10.000 a 30.000 nascidos vivos. Alguns casos podem desenvolver complicações neurocirúrgicas que podem levar ao óbito. Objetivos: Descrever as principais intercorrências neurocirúrgicas nos pacientes acondroplásicos bem como estabelecer a frequência e as manifestações da estenose de junção craniocervical e da hidrocefalia nos pacientes acompanhados num centro de referência entre janeiro de 2015 e dezembro de 2017. Materiais e Métodos: Estudo observacional de 31 pacientes, retrospectivo para os dois primeiros casos e prospectivo para os 29 casos seguintes. O estudo foi conduzido de forma a identificar e analisar os fatores de risco associados a estenose de canal cervical por compressão do forame magno e a hipertensão intracraniana na hidrocefalia. Os dados foram coletados através de ficha própria preenchida durante consulta médica no ambulatório de Neurocirurgia do Instituto Fernandes Figueira/ Fiocruz e através da revisão dos prontuários da mesma instituição. Foram analisadas variáveis relacionadas ao diâmetro do forame magno e dos ventrículos cerebrais na tomografia computadorizada e na ressonância magnética, necessidade de cirurgia para descompressão da junção craniocervical ou terceiroventriculostomia endoscópica, exame físico e neurológico e fatores relacionados a história familiar. Resultados: Dos 31 pacientes do estudo, sete foram submetidos a cirurgia de descompressão craniocervical por apresentarem sinais de sofrimento medular e alteração dos reflexos tendinosos. Não encontramos relação significativa entre o diâmetro ventricular e sinais de hidrocefalia nos pacientes estudados. A terceiroventriculostomia endoscópica foi realizada com sucesso em uma paciente que apresentou alterações de fundo de olho com edema de papila óptica, hipertensão arterial e crises convulsivas. Conclusões: Apesar da amostra reduzida de 31 pacientes, os achados foram compatíveis com a literatura. As complicações neurocirúrgicas mais frequentes encontradas nos pacientes acondroplásicos da série foi a estenose de junção craniocervical em 22,5% dos casos e a hidrocefalia em 3,2%. O diâmetro do forame magno esteve diretamente relacionado aos sintomas de compressão medular nos pacientes desta série. A complicação cirúrgica evitável mais frequente foi a abertura dural acidental. A terceiroventriculostomia endoscópica foi realizada em um único paciente e observamos que o diâmetro ventricular não deve ser utilizado como parâmetro para indicação de cirurgia para derivação ventricular nesses pacientes pois a maioria deles apresenta macrocefalia devido à ventriculomegalia.

Introduction: Achondroplasia is caused by a mutation of the FGFR3 gene and is one of the most common forms of skeletal dysplasia. Its incidence is one for every 10,000 to 30,000 born alive. Some cases may develop neurosurgical complications that can lead to death. Objectives: To describe the main neurosurgical complications in patients with achondroplasia as well as to establish the frequency and manifestations of craniocervical junction stenosis and hydrocephalus in patients followed up in a reference center between January 2015 and December 2017. Materials and Methods: Observational study of 31 patients, retrospective for the first two cases and prospective for the remaining 29 cases. The study was conducted to identify and analyze the risk factors associated with cervical canal stenosis by compression of the foramen magnum and intracranial hypertension in the hydrocephalus. The data were collected through study specific records filled during medical consultation in the neurosurgery clinic of the Instituto Fernandes Figueira/Fiocruz and through the revision of the records of the same institution. Variables related to the diameter of foramen magnum and cerebral ventricles were analyzed in computerized tomography and magnetic resonance imaging, necessity of surgery for decompression of the craniocervical junction or endoscopic third ventriculostomy, physical, neurological examination and factors related to family history. Results: Among the 31 patients in the study, seven underwent craniocervical decompression surgery after displaying signs of medullary suffering and alteration of tendon reflexes. We did not find a meaningful relationship between the ventricular diameter and the signs of hydrocephalus in the patients studied. Endoscopic third ventriculostomy was performed on one patient, successfully, that presented alterations of eye background with optic papilla edema, arterial hypertension, and convulsive crises. Conclusions: Despite the reduced sample of 31 patients, the findings were compatible with the literature. The most frequent neurosurgical complications found in patients with achondroplasia in the series were craniocervical junction stenosis in 22.5% of cases and hydrocephalus at 3.2%. The diameter of the foramen magnum was directly related to the symptoms of spinal cord compression in the patients of this series. The most frequent avoidable surgical complication was the accidental dural opening. Endoscopic third ventriculostomy was performed on a single patient and we observed that the ventricular diameter should not be used as a parameter for indication of ventricular shunt surgery in these patients because most of them presents macrocephaly due to ventriculomegaly.

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal stenosis in achondroplasia: report of a case

Achondroplasia is the most frequent cause of disproportionate short stature. Characterized by abnormal growth of long bones, it renders a short-limbed individual of normal intelligence. A serious potential complication is spinal compression, which can happen at any level but is particularly common at the craniocervical junction. It can cause important morbility during the first few years of life, including sudden death. We present a 22-month-old patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results.

La acondroplasia es la condición asociada a talla baja desproporcionada más frecuente, caracterizada por un crecimiento óseo anormal, que resulta en talla baja con extremidades cortas e inteligencia normal. Una de las complicaciones más habituales es la compresión medular, que puede ocurrir a cualquier nivel, siendo más frecuente en la unión cráneo cervical, generando alta morbimortalidad en los primeros años de vida, principalmente por muerte súbita. Presentamos una paciente de 1 año 10 meses con diagnóstico precoz de acondroplasia, que presentó en su evolución estenosis acueductal con compresión medular, sintomática, pesquisada en control rutinario, que requirió cirugía descompresiva con buena evolución posterior.

A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 microm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.

Acondroplasia (AC) y sus complicaciones neurológicas: a propósito de un caso / Achondroplasia (AC) and its Neurological Complications: a Case Report

Introducción: La acondroplasia (AC) es la condición más común asociada a una estatura baja con grave desprorción anatómica. Las complicaciones neurológicas constituyen la causa más frecuente de su morbilidad y mortalidad, entre las que pueden citarse: hidrocefalia, compresión cervicomedular, estenosis del canal lumbar, hidrosiringomielia, etc. Caso Clínico: Paciente de sexo femenino, de 2 años 6 meses de edad con diagnóstico pre-natal de AC por ecografía obstétrica de control. Parto sin complicaciones, RN con aplanamiento de la cara, nariz corta y redondeada. Presentó sostén cefálico a los 7 meses, caminó a los 18 meses y habló a partir de los 2 años. Hospitalizada por cuadro respiratorio grave, presentó al examen físico: Fuerza muscular global y simétrica Oxford 1/5, ROT disminuidos los rotulianos y abolidos los aquíleos, cutáneo abdominales ausentes; ingresada a UTIP, en ARM. Se le realizó estudio RMN donde se observó compresión medular a nivel de C1 con cavidades intramedulares (siringomielia). Se le practicó cirugía descompresiva. Actualmente traqueostomizada, continúa dependiente de ARM. Los pediatras en su práctica diaria pueden ver a niños con AC durante la infancia, realizar el diagnóstico en el RN o tal vez sean requeridos para aconsejar a embarazadas que han recibido el diagnóstico pre-natal de AC; por lo tanto, deben estar adecuadamente informados sobre la necesidad de cuidados especiales que requieren estos niños en su difícil manejo y así evitar posibles complicaciones neurológicas. Palabras claves: Acondroplasia, Complicaciones neurológicas, niño

Correction of anterior open bite in a case of achondroplasia.

Treatment planning for patients with skeletal deformities is often considered challenging. This article reports a female patient with achondroplasia who presented with severe maxillary retrognathism and vertical excess along with anterior open bite. The clinical and cephalometric findings of the patient are detailed here. The treatment plan consisted of modified anterior maxillary osteotomy for simultaneous vertical and sagittal augmentation along with orthodontic intervention. The course of surgical-orthodontic treatment and the results are presented. This treatment is to be followed by correction of vertical maxillary excess after completion of growth. This paper concludes that the dentoalveolar component of a skeletal deformity can be handled independent of the craniofacial management.

Pseudoachondroplastic dysplasia.

Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.