18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

G. T. S. D. S., 1 year and 2 months old, male patient, diagnosed with the rare condition of Pontocerebellar Hypoplasia Type 1D (PCH1D), resulted from an alteration in the EXOSC9 gene. Son of non-consanguineous parents. Prenatal care was complete. The patient was born by vaginal delivery without complications, at 36 weeks and 6 days of gestational age, with the following measurements: height = 44.5 cm; weight = 2660 kg; head circumference = 33.8 cm.


At 2 months old, the first symptom was noticed: looking up fixedly. The investigation began: electroencephalogram, cranial computed tomography and cranial magnetic resonance - all within normal results. Family consulted a geneticist who ordered screening tests for inborn errors of metabolism. All with unchanged results. After 3 months, he started rehabilitation and showed improvement: he still could not support his head by himself, but was able to rotate his neck. At 6 months-old he started having several spasms during the day. Valproic acid was administered, but adverse reactions of drowsiness caused it to be discontinued before 1 month of use; vigabatrin was introduced and after one month the spasms completely ceased. Currently, the patient remains under specialized follow-up and uses vigabatrin 500 mg daily. Exome sequencing test and a new magnetic resonance imaging were performed and respectively evidenced a homozygous variant of the EXOCS9 gene (NM_001034194.1: c.41T>C-p.Leu14Pro) and pontocerebellar hypoplasia. After 7 months, he stopped gaining weight which demanded follow-up with gastropediatrics and nutritionist. He has since required a gastrostomy to be able to receive a complete diet.

Comentários finais

Besides the present case, only 10 others with the same variant in the EXOCS9 gene (NM_001034194.1: c.41T>Cp.Leu14Pro) were reported, which represents 60% of the total reported cases of Pontocerebellar Hypoplasia Type 1D (PCH1D). It is a severe autosomal recessive neurological disorder characterized by severe hypotonia and an apparent motor neuronopathy, and also includes severe delay in gross motor development. Patients may present slow growth rates, contractures, eye movement abnormalities, respiratory failure and feeding difficulties, and epilepsy. The case highlights the importance of the molecular study for both predicting prognosis and for family orientation in similar situations.

Referências (se houver)

Palavras Chave

Pontocerebellar hypoplasia, exome, EXOSC9 gene

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

The authors declare that they have no conflicts of interests or benefits in any form related to the subject of this report.


Malformações do sistema nervoso central


FMABC - Faculdade de Medicina do ABC - São Paulo - Brasil, UNIFENAS - Universidade José do Rosário Vellano - Minas Gerais - Brasil


Mariana Lasmar Corrêa, Lara Ramos Vasconcelos, Larissa Maria Soares Lyrio, Luana Alves De Andrade, Marcelly Aparecida Teixeira Rodrigues, Letícia Souza Santos, Thaynan Oliveira Nunes, Nathalia Ferreira Souza, Larissa Carvalho Oliveira