Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.

Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy, PELD) is a recessive neurodegenerative disease that is fatal in childhood. It is caused by a c.985C>T variant in the BSCL2/seipin gene that results in an aberrant seipin protein. We evaluated neurological development before and during treatment with human recombinant leptin (metreleptin) plus a dietary intervention rich in polyunsaturated fatty acids (PUFA) in the only living patient. A 7 years and 10 months old girl affected by PELD was treated at age 3 years with metreleptin, adding at age 6 omega-3 fatty acid supplementation. Her mental age was evaluated using the Battelle Developmental Inventory Screening Test (BDI), and brain PET/MRI was performed before treatment and at age 5, 6.5, and 7.5 years. At age 7.5 years, the girl remains alive and leads a normal life for her mental age of 30 months, which increased by 4 months over the last 18 months according to BDI. PET images showed improved glucose uptake in the thalami, cerebellum, and brainstem. This patient showed a clear slowdown in neurological regression during leptin replacement plus a high PUFA diet. The aberrant BSCL2 transcript was overexpressed in SH-SY5Y cells and was treated with docosahexaenoic acid (200 µM) plus leptin (0.001 mg/ml) for 24 h. The relative expression of aberrant BSCL2 transcript was measured by qPCR. In vitro studies showed significant reduction (32%) in aberrant transcript expression. This therapeutic approach should be further studied in this devastating disease.

Meduloblastoma congénito asociado a quiste aracnoideo intracraneal / Congenital medulloblastoma associated with intracranial arachnoid cyst

Los quistes aracnoideos intracraneales constituyen una patología frecuente en la edad infantil y su tratamiento quirúrgico se realizará en función de su sintomatología y su localización. Habitualmente se trata de lesiones únicas, aunque pueden asociarse a otras patologías tanto malformativas como tumorales. Presentamos el caso clínico de un varón recién nacido diagnosticado de un quiste aracnoideo de la cisterna cuadrigeminal que fue tratado mediante endoscopia. En el postoperatorio, ante un empeoramiento neurológico se diagnosticó un meduloblastoma de cerebelo que no se evidenciaba en los estudios neurorradiológicos previos y del que se realizó una extirpación parcial. Dada la edad del paciente y el pobre pronóstico, no se realizó tratamiento oncológico. La asociación de un meduloblastoma de cerebelo y un quiste aracnoideo es excepcional, y hasta donde podemos conocer únicamente existe en la bibliografía un caso similar

Arachnoid cysts are very common lesions in paediatric patients, with treatment dependingon their location and symptomatology. They are usually solitary cysts but may be associatedwith other central nervous system diseases such as tumours and congenital deformities.We describe the case of a neonate diagnosed with an arachnoid cyst of the quadrigeminalcistern treated by endoscopy. After the operation, the child’s condition worsened; a CT scanrevealed a midline posterior fossa tumour not visible in the preoperative neuroradiologicaltests. The tumour, a medulloblastoma, was partially removed. Given the child’s age andthe poor prognosis, oncological treatment was not undertaken. The association between medulloblastoma and arachnoid cyst is very rare, and we could find only one such case inthe literatura

[Congenital medulloblastoma associated with intracranial arachnoid cyst]. / Meduloblastoma congénito asociado a quiste aracnoideo intracraneal.

Arachnoid cysts are very common lesions in paediatric patients, with treatment depending on their location and symptomatology. They are usually solitary cysts but may be associated with other central nervous system diseases such as tumours and congenital deformities. We describe the case of a neonate diagnosed with an arachnoid cyst of the quadrigeminal cistern treated by endoscopy. After the operation, the child's condition worsened; a CT scan revealed a midline posterior fossa tumour not visible in the preoperative neuroradiological tests. The tumour, a medulloblastoma, was partially removed. Given the child's age and the poor prognosis, oncological treatment was not undertaken. The association between medulloblastoma and arachnoid cyst is very rare, and we could find only one such case in the literature.