Qi, Yang-Fan MDa; Ma, Xiaoping MDb; Lin, Shuang-Zhu PhDc; Wang, Wan-Qi MDa; Li, Jia-Yi MDa; Chen, Qian-Dui MDa; Liu, Li PhDb, | Medicine | December 22, 2023 | 102(51) | p e36357 | DOI: 10.1097/MD.0000000000036357
Abstract
Rational Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive disorder caused by mutations in the CWC27 gene. Skeletal dysplasia and non-syndromic retinitis pigmentosa are typical manifestations, and most patients present with retinopathy such as retinitis pigmentosa and limited visual field. Its clinical manifestations are complex and diverse, often involving multiple systems. Examples include short finger deformities, peculiar facial features, short stature, and neurodevelopmental abnormalities, and it is easy to misdiagnose clinically, and early diagnosis is crucial for prognosis.
Patient concerns A 2-year and 2-month-old female child was admitted to the hospital due to “unsteady walking alone and slow reaction for more than half a year.” After admission, the child was found to have delayed motor development, accompanied by special face, abnormal physical examination of the nervous system, cranial MRI Dandy-Walker malformation, considering developmental delay.
Diagnoses Whole exome sequencing of the family line revealed the presence of a c.617(exon7)C>A pure mutation in the CWC27 gene in the affected child (this locus has been reported in the clinical literature); the final diagnosis is RPSKA.
Interventions Unfortunately, there is no specific drug for the disease; we give children rehabilitation training treatment.
Outcomes
During follow-up process we found that children’s condition is better than before.
Lessons subsections as per style We reported a case of RPSKA caused by mutations in the CWC27 gene. This study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.
Introduction
The CWC27 gene (OMIM: 617170), located on chromosome 5q12.3, is a splice-like cyclophilic peptidyl-prolyl cis-trans isomerase[1]; Phillips et al[2] first reported children with the gene mutation in 1981. Inheritance is autosomal recessive, and common variants include homozygous and complex heterozygous variants. Retinitis pigmentosa with or without skeletal anomalies (RPSKA) (OMIM: 250410) is an autosomal recessive genetic disease caused by mutations in the CWC27 gene. The disease can involve multiple systems, with skeletal dysplasia and retinopathy as the main manifestations, accompanied by developmental abnormalities. The characteristic retinopathy is manifested as retinitis pigmentosa, restricted visual field, ptosis of eyelid fissure, and thinning of retinal blood vessels.[3,4] We report a case of a homozygous variant of the CWC27 gene in which onset of stunting was the main manifestation. Our report enriches the understanding of the clinical phenotype of CWC27 mutations and provides a realistic and reliable basis for clinicians.
Case presentation
A 2-year and 2-month-old female child suffered from gross motor developmental delay after birth. She could stand upright at 2 months, turn over at 4 months, sit at 6 months, and unconsciously utter “baba, mama” at 1 year and 1 month. Sound, crawling at 1 year and 4 months, walking alone at 1 year and 8 months, still walking unsteadily, slow response, can only consciously pronounce “Dad, Mom.” During the period, the child was 8 months old because she could not climb and was treated in our hospital, and the physical examination found that the muscle tone was high, and there was no significant improvement after giving rehabilitation training guidance, and half a month ago she was treated in our hospital because of “unstable walking alone and slow response,” and was admitted to the hospital after the outpatient clinic with the main complaint of “unstable walking alone and slow response for more than half a year.” Current symptoms: the child is unstable alone, slow response, can only consciously make “dad, mother” sound, no cough and fever, no vomiting and diarrhea, diet and sleep, normal stool.
After admission, we asked the children’s birth and growth history in detail; the children were G4P2, 36 + 6 weeks cesarean section, BW 2000 g (−3SD), born with little amniotic fluid, asphyxiation and rescue history, post-natal diagnosis of “respiratory distress, preterm delivery, low birth weight infants, neonatal pneumonia, neonatal hypoglycemia, ventricular, atrial, patent ductus arteriosus, hyperbilirubinemia, renal horseshoe kidney, hearing abnormalities of both ears,” after treatment were better discharged (unknown). The mother had been suffering from “upper respiratory tract infection” for more than 10 days during pregnancy, without special treatment, before birth due to “little amniotic fluid” oxygen for 2 days, and still denied the special situation. After birth, the children’s great movement development lags behind their peers, they can erect at the age of 2 months, turn over at the age of 4 months, sit at the age of 6 months, unconsciously give the sounds of “baba, mama” at the age of 1 year, climb at the age of 1 year, 4 months, walk alone at the age of 1 year, and still walk unstably, have slow reaction, have slow eye contact with people, can express sign language, but can only give the sounds of “Mom and Dad,” are happy to talk to themselves, are happy to open the door, can execute simple instructions, cannot show the inconvenience.
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