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Título

CANTU SYNDROME AS A DIFFERENTIAL DIAGNOSIS OF DEPOSIT DISEASES: A CASE REPORT

RESUMO

Case report: The patient is a female child, who sought consultation with a neurologist at 1 year and 8 months of age due to delay in neuropsychomotor development and excessive irritability. She showed features of thick hair up to the forehead and increased body hair, prominent mouth with full lips, macroglossia, coarse face, wide nasal bridge; also had a history of surgically corrected congenital heart disease (patent ductus arteriosus) at 9 months old and a hypertrophic cardiomyopathy of the left heart ventricle. The hypothesis of lysosomal storage disorder was raised and a genetic testing was requested. The result was an alteration in the ABCC9 gene, indicative of Cantu Syndrome. Patient was referred to orthopedist for the investigation of osteochondrodysplasia, speech therapy and physiotherapy, and advised to keep follow-up with a cardiologist. Discussion: Cantu Syndrome is a rare disease, with little more than 100 cases described in the literature, caused by alteration in two genes, ABCC9 and KCNJ8. It is inherited in an autosomal dominant manner and is proposed as a potassium channelopathy. Clinical features include face coarse with bushy eyebrows, prominent supraorbital ridges, anteverted nostrils, prominent mouth with full lips, macroglossia, wide nasal bridge, long and wide philtrum, hypertrichosis with generalized increase in body hair, cardiomegaly, patent ductus arteriosus requiring correction, mild speech delay, broad ribs, skull thick, scoliosis, flaring of the metaphyses. The patient in the clinical case has the main features of the disease. Differential diagnoses of the disease includes Beckwith-Wiedemann syndrome, Zimmermann-Laband, dilated and hypertrophic cardiomyopathy, mucolipidosis III and mucopolysaccharidosis (types I, II and IV), the latter one being the patient's initial diagnostic hypothesis. Final comments: So far, there is no treatment for Cantu Syndrome, however the manifestations can be managed individually, such as follow-up with a cardiologist and correction of correctable changes; dermatological treatment for hypertrichosis; surgical correction of possible bone changes; monitoring of DNPM in children with delay, among others. There is great potential in therapeutic options with future clinical studies.

Palavras Chave

Cantu Syndrome; rare disease;