Dados do Trabalho

Título

CASE REPORT: PERCHING SYNDROME

Apresentação do caso

Female patient, 3 years old, diagnosed with PERCHING Syndrome. The patient is the daughter of non-consanguineous parents who had 2 previous abortions. During prenatal care, the patient receveid diagnosis of cardiac rhabdomyoma and thinning of the corpus callosum. After birth, she developed suction difficulties, neuropsychomotor developmental delay and axial hypotonia; in addition, the patient developed stridor after feedings and repeated pulmonary infections, requiring tracheostomy and gastrostomy in the age of 2 months old. In the evaluation, the patient presented facial dysmorphisms such as hypertelorism and retrognathia, in addition to deformity of the limbs with joint contractures and camptodactyly.
At 12 months of age, next-generation sequencing was collected and two heterozygous pathogenic variants were identified in the KLHL7 gene: a) TCTGA>T , at position chr7:23,140,920, a stop codon, and b) G>C, in position chr7:23,144,030 classified as probably pathogenic, which is related with altered mRNA processing and can be correlated with the clinical findings of the patient.

Discussão

Perching syndrome is an autosomal recessive multisystem disorder caused by homozygous or compound heterozygous variants (truncating and missense) in Kelch Like Family Member 7 gene (KLHL7), located on chromosome 7p15. It is characterized by global developmental delay, axial hypotonia, facial dysmorphisms, joint contractures, in addition to impairment in growth, feeding and nutrition. Patients may also have retinitis pigmentosa, cardiac abnormalities, genitourinary tract abnormalities, and excessive sweating. There are few cases reported in the world- since the first report of the syndrome in 2016, 18 patients have been reported- however, knowledge about this rare differential diagnosis is important in the face of an encephalopathy with phenotypic changes.

Comentários finais

Constant training in the area of genetics and dysmorphology is important to prevent these cases from remaining undiagnosed.

Referências (se houver)

Palavras Chave

Perching Syndrome; Kelch Like Family Member 7 gene (KLHL7)

Fonte de Fomento (se houver)

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Área

Neurogenética