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Título

Report of a rare case of Pontocerebellar Hypoplasia Type 6 in a child in the Amazon Region of Northern Brazil.

RESUMO

Case Presentation: EGM, female, 2 years old, presenting with recurrent and uncontrolled seizures since 4 days of life, in addition to spasms and myoclonus. Neuropsychomotor and hypersecretive delay. Cranial Computed Tomography showed prominence of the retrocerebellar cerebrospinal fluid space in the posterior fossa, suggesting the possibility of megacisterna magna. He had frequent seizures during hospitalization. The diagnostic hypothesis of Pontocerebellar Hypoplasia was then raised. The Exome Post Expanded Panel, from the DNA extracted from nasal swab, was requested. In the molecular analysis by exome sequencing, two heterozygous variants were identified in the RARS2 gene, position chr6:87,589,923, T > C variation, concluding the diagnosis of Pontocerebellar Hypoplasia Type IV, associated with Double Hemiparesis, Epilepsy and Global Delay in the Neuropsychomotor Development. For better quality of life and refractoriness of epileptic seizures, the drugs OXCARBAMAZEPINE, PHENYTOIN, DIAZEPAN, PHENOBARBITAL, LEVETIRACETAM, CLOBAZAM were scheduled, in addition to general support. Due to neurodegenerative dysphagia, a gastrostomy was made to maintain the diet. Genetic counseling and general guidelines were carried out. The patient was referred for outpatient, multidisciplinary follow-up and rehabilitation. Discussion: Pontocerebellar Hypoplasia (HPC) is a group of rare, hereditary, progressive neurodegenerative disorders that start in utero. It is a heterogeneous group of rare neurodegenerative diseases caused by genetic mutations and characterized by progressive atrophy of various parts of the brain, cerebellum or brain stem. Seven subtypes of mutations have already been identified, and in all of them there are characteristics of severe cognitive and motor deficiencies. When known, these disorders are inherited in an autosomal recessive manner. Treatment for all types is only symptomatic and supportive, as the prognosis is of death during early childhood in most of the few cases described in the literature, and this was established for the patient in question. Final Comments: The reported case and cited publications raise the complex situation that is the described disease and that despite the poor prognosis and the absence of specific treatment, the correct diagnosis and stabilization of a symptomatic and supportive therapy can improve the quality of life of patients. patients and family members.

Palavras Chave

Pontocerebellar Hypoplasia. Neurodegenerative Disease. Genetic Disease. Case Rare.