Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal Stenosis in Achondroplasia: a Clinical Case Report

Resumen: 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. Palabras clave: Acondroplasia, estenosis acueductal, compresión medular sintomática, hidrocefalia, craniectomía suboccip

Achondroplasia is the most frequent cause of disproportionate short stature, it is characterized by abnormal growth of long bones, rendering 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 morbidity during the first few years of life, including sudden death. We present a 22-monthold patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results. Key words: Achondroplasia, aqueductal stenosis, symptomatic spinal cord compression, hydrocephalus, suboccipital craniectomy.

Observations on the Activation of Chronic Compensated Hydrocephalus in Adult Patients / 대한신경손상학회지

OBJECTIVE: There is a broad spectrum of compensated hydrocephalus. Various terms such as long-standing overt ventriculomegaly in adult (LOVA) has been coined, however, even such terms leave diverse aspect of this condition out of account. We have experienced compensated hydrocephalus cases which were considered to be activated after a long time period of quiescent state, and tried to compare their clinical characteristics with the relatively well described entity of LOVA. METHODS: We conducted a retrospective review of 206 patients who underwent ventriculoperitoneal shunt (VPS) between February 2001 and May 2012. Of these, 6 patients had chronic compensated hydrocephalus. The clinical and radiological characteristics are evaluated. RESULTS: Definite triventriculomegaly was observed in two patients. Macrocephaly was observed in two cases, one with aqueductal stenosis (AS), the other with unknown status of aqueduct. All of the cases with triventriculomegaly were normocephalic. Spinal causes were thought as aggravating factor in two. Two endoscopic third ventriculostomy and eight VPS were performed in five patients. Four patients responded well but one took a very complicated course. CONCLUSION: The relationships between macrocephaly, triventriculomegaly, and AS suggested in other studies were inconsistent. Blockage or narrowing of cerebrospinal fluid pathways were observed at various sites. Disturbances of spinal arachnoid pathways were related to the activation in some cases. Treatment is to be tailored individually considering various reigniting event. It is suggested that this entity is to be evaluated for better nomenclature reflecting diverse aspects of this condition. Further study is needed to elucidate underlying pathophysiology and effective management.

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.

Endoscopic Aqueductoplasty and Stenting for Isolated Fourth Ventricle

Isolated fourth ventricle(IFV) is a rare entity producing symptoms of a progressive posterior fossa mass lesion. It is mainly reported in a patient who undergo shunt placement as its late complication. However, its surgical management has been difficult and its optional treatment remains controversial. We had an occasion to admit 19-year-old female to our hospital due to hydrocephalus: she had a history of meningitis when she was 2 years old. Ten years later, she was diagnosed as hydrocephalus and managed by lateral ventriculo-peritoneal shunting procedure. Seven years after the procedure, the patient presented with headache, nausea, truncal ataxia and nystagmus. Computed tomography and magnetic resonance image scan demonstrated markedly enlarged fourth ventricle: and thus, neuroendoscopic aqueductoplasty and aqueductal stent insertion was performed. The authors present a case of an IFV after lateral ventriculo-peritoneal shunting for hydrocephalus, which was treated successfully with a neuroendoscopic surgery. The technique of this procedure is described below.