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[Report of a case with Johanson-Blizzard syndrome and literatures review]
Zhi-Feng Liu1, Zhi-Hua Zhang, Mei Li
1Department of Digestive Diseases, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
Insights
Johanson-Blizzard syndrome is a rare genetic disorder affecting multiple systems. Diagnosis involves recognizing clinical signs like pancreatic insufficiency and nasal wing issues, confirmed by UBR1 gene analysis.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Johanson-Blizzard syndrome is a rare autosomal recessive disorder.
- It is characterized by congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings.
Observation:
- A case study and review of 29 patients revealed common clinical manifestations.
- Key features include exocrine pancreatic insufficiency (72.4%), hypoplastic alae nasi (93%), sensorineural hearing loss (59%), and scalp defects (69%).
Findings:
- UBR1 gene analysis is crucial for diagnosis.
- The study identified heterozygous missense changes in the UBR1 gene in one patient.
Implications:
- Early diagnosis and genetic analysis are vital for managing Johanson-Blizzard syndrome.
- Understanding the clinical spectrum aids in identifying affected individuals.
Objective:
To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.
Method:
The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.
Result:
A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).
Conclusion:
Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.
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