18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

Patient T.R.V.F. presented the variant c.525delT in the SGCG gene, result of genetic screening at 2 months old because of a brother with girdle dystrophy, that presented the same alteration, translating into the Limb-Girdle Muscular Distrophy (LGMD2C). In appointment with an endocrinologist due to complaints of short stature and exams accusing anemia and thyroid stimulating hormone alteration, clinical and radiological signs of osteopetrosis were also found. A complete exome examination and another specific to osteopetrosis, investigating the CLCN7 gene, showed no alterations corresponding to the signs presented. After the medical team recommended a bone marrow transplant, a specialist found the clear signs of the disease and proceeded with the operation. Two weeks later the patient evolved with hypercalcemia, treated with 90mg disodium pamindronate. After this, his evolution registered a positive response to treatment, with 14% reduction in bone mass and an absorption rate of 700%.


The LGMD is a heterogeneous group of genetic muscle diseases characterized by progressive impairment of the pelvic and scapular girdle muscles. LGMD2C constitutes the autosomal recessive form that has mutations in the gamma subunit of the sarcoglycan complex. The proximal muscle involvement manifests itself symmetrically, initially at the pelvic girdle. Patients typically have elevated serum creatine kinase levels. The pharmacological treatment aims to slow down the evolution of the disease. Support therapies, such as physiotherapy, help maintain patients' quality of life. Osteoprostrosis is an autosomal recessive inherited osteopathy caused by dysfunction of the osteoclasts in reabsorbing bone matrix, which increases mineralized osteoid material. Clinical signs and symptoms manifest themselves through extramedullary hematopoiesis, narrowing of the cranial nerve foramen, macrocephaly, decreased height, and delayed neuropsychomotor development. Bone marrow transplantation is the most efficient therapeutic alternative.

Comentários finais

The importance of genetic mapping is emphasized here, as well as the importance of a communicative medical team, the importance of attention to test results and clinical analysis, which allowed the early identification of a rare disease, coupled with another of the same quality.

Referências (se houver)

BORSATO, M. L. et al. Osteopetrose maligna: transplante de medula óssea. Revista Brasileira de Hematologia e Hemoterapia, v. 30, p. 168–171, abr. 2008.
CORDEIRO, S. A.; GAIAD, T. P. Evolução Funcional da Distrofia Muscular do Tipo Cinturas em Indivíduos de Uma Mesma Família. Revista Brasileira de Ciência e Movimento, v. 23, n. 4, p. 104–114, 30 dez. 2015.
STARK, Z.; SAVARIRAYAN, R. Osteopetrosis. Orphanet Journal of Rare Diseases, v. 4, n. 1, p. 5, dez. 2009.
VAINZOF, M. et al. Sarcoglycanopathies: an update. Neuromuscular disorders: NMD, v. 31, n. 10, p. 1021–1027, out. 2021.

Palavras Chave

Osteopetrosis; Muscular Dystrophies; Human Genetics

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

all authors declare that they have no conflict of interest of any kind


Doenças neuromusculares


Centro Universitário UNINORTE - Acre - Brasil, Hospital da Criança- SASMAC - Acre - Brasil, Universidade Federal do Acre - Acre - Brasil


Bruna Cruz Borges Beyruth, Pedro Lucas Gomes Lima, Adriele Souza De Lima, Evelyn Vieira da Silva, Thais Roberta Janson Gonçalves, Larissa Maria Paula Rebouças Da Costa, Aluildo Moura Oliveira Júnior, Catarina Souza, Bethania Freitas Rodrigues Ribeiro