18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

Female patient, 11 months old, presented with delayed motor development. The patient was born at 37 weeks' gestational age as part of a twin pregnancy. At birth, the patient had mild hypotonia, whereas her twin sister was unremarkable. There was no significant family history. Examination revealed little visual attention with nystagmus and generalized hypotonia, particularly axial. She was unable to sit without support, crawl, or roll over with ease, and exhibited impaired fine motor coordination with slight intentional tremors. Normal deep reflexes were present, while the defense (parachute) reflex was absent. In a Denver model evaluation, the patient displayed a developmental delay of approximately four to six months. An electroencephalogram showed normal findings, while a cranial magnetic resonance imaging showed cerebellar hypoplasia and atrophy. Exome sequencing revealed two pathogenic variants of the PMM2 gene, responsible for congenital disorder of glycosylation type 1A inherited in a recessive pattern. The patient underwent cognitive stimulation through the Denver model, as well as speech therapy, occupational therapy, and physiotherapy. Additionally, acetazolamide was initiated. At two years and three months old, the patient had improved in all areas, particularly after starting acetazolamide. However, she still exhibited trunk hypotonia and difficulty with fine motor coordination, although she was able to sit without support and stand with support from a lying position.


Congenital disorders of glycosylation are characterized by defective glycosylation of proteins and lipids, which can cause malfunctions in all systems. The most common defect arises from a mutation in the PMM2 gene. The disease has a heterogeneous clinical presentation, with neurological manifestations being the most common, including intellectual disability, cerebellar dysfunction, and hypotonia. Currently, there are few treatment options for this disease, but acetazolamide has been shown to reduce cerebellar dysfunction.

Comentários finais

Congenital disorder of glycosylation type 1A is a relatively rare disorder with a poor prognosis, and there are few validated treatment options available. However, this case demonstrates a good response to acetazolamide, which should be used in conjunction with other therapies under study.

Referências (se houver)

1. Zhang Z, Huang TL, Ma J, He WJ, Gu H. Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders. BMC Med Genet. 2019;20(1):181. Published 2019 Nov 14. doi:10.1186/s12881-019-0902-z
2. Péanne R, de Lonlay P, Foulquier F, et al. Congenital disorders of glycosylation (CDG): Quo vadis?. Eur J Med Genet. 2018;61(11):643-663. doi:10.1016/j.ejmg.2017.10.012
3. Schiff M, Roda C, Monin ML, et al. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. J Med Genet. 2017;54(12):843-851. doi:10.1136/jmedgenet-2017-104903
4. Gámez A, Serrano M, Gallego D, Vilas A, Pérez B. New and potential strategies for the treatment of PMM2-CDG. Biochim Biophys Acta Gen Subj. 2020;1864(11):129686. doi:10.1016/j.bbagen.2020.129686
5. Martínez-Monseny AF, Bolasell M, Callejón-Póo L, et al. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Ann Neurol. 2019;85(5):740-751. doi:10.1002/ana.25457

Palavras Chave

congenital disorders of glycosylation, PMM2, acetazolamide.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Declaro não estar submetido a qualquer tipo de conflito de interesse junto aos participantes ou a qualquer outro colaborador, direto ou indireto, para o desenvolvimento do Relato de Caso intitulado “IMPACT OF ACETAZOLAMIDE ON CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A: A CASE REPORT”, cujos autores envolvidos são: “Sergio Antonio Antoniuk, Rafael Lima de Almeida, Camila Guimarães Parrela, Kathielen Fortes Rösler, Jamile Bonini Hadaya, Maytza Mayndra Correa, Leticia Pugim Ferreira, Danielle Caldas Bufara e Natália Clarice Meneghel Vargas”.


Erros inatos do metabolismo


HC-UFPR - Paraná - Brasil


Sergio Antonio Antoniuk, Rafael Lima de Almeida, Camila Guimarães Parrela, Kathielen Fortes Rösler, Maytza Mayndra Correa, Jamile Bonini Hadaya, Leticia Pugim Ferreira, Danielle Caldas Bufara, Natália Clarice Meneghel Vargas