RESUMO
OBJECTIVE@#To explore the clinical feature, diagnosis and phenotype of Majeed syndrome.@*METHODS@#Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed.@*RESULTS@#The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur.@*CONCLUSION@#Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
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Criança , Humanos , Lactente , Masculino , Anemia Diseritropoética Congênita/genética , Testes Genéticos , Síndromes de Imunodeficiência/genética , Osteomielite/genéticaRESUMO
OBJECTIVE@#To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).@*METHODS@#Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.@*RESULTS@#The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).@*CONCLUSION@#The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
Assuntos
Criança , Humanos , Lactente , Masculino , Fácies , Doença de Hirschsprung/genética , Deficiência Intelectual/genética , Microcefalia/genética , MutaçãoRESUMO
Objective To explore the clinical manifestations, CT features, and inheritance pattern of Fahr disease. Methods Head CT was scanned and serum calcium and phosphorum were measured in 14 persons from 2 families, and the 2 families' history was investigated. Results The serum calcium and phosphorum were normal in the 14 persons. There were 8 cases of Fahr disease, and the head CT showed local or diffuse calcium deposition in bilateral basal ganglia, subcortex, and thalamus, respectively. The inheritance pattern of the 8 cases of Fahr disease in the two families showed holandric inheritance, The clinical symptom and sign included seizures, irritability, mental retardation or no abnormal findings. Conclusion Fahr disease is a hereditary disease characterized by idiopathy and calcium deposition in the central nervous system. The clinical feature is various and head CT is an important examination in the diagnosis of Fahr disease.