scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals Pancreatic cancer in bloom syndrome

2019 ◽  
Vol 7 ◽  
pp. 2050313X1985558
Author(s):  
Itai Tzfoni ◽  
Jennifer Chayo ◽  
Meital Shaked ◽  
Ezra Bernstein ◽  
Roy Dekel ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genomic Instability ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Gastrointestinal Cancers ◽  
Recq Helicase ◽  
First Case ◽  
Physical Features ◽  
Blm Gene

Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role in genome editing, maintenance, and stability. Mutations in the BLM gene cause genomic instability that exposes the carriers to a variety of cancers, and in particular hematological and gastrointestinal cancers. Herein, we report the first case of pancreatic cancer in a 32-year-old patient with bloom syndrome.

scholarly journals Severe generalized dystonia in paediatric onset wilsons disease

2019 ◽  
Vol 6 (6) ◽  
pp. 2720
Author(s):  
Jyothi A. ◽  
Subramanya N. K.
Keyword(s):  
Case Report ◽  
Wilson Disease ◽  
Transport Mechanism ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Neurological Involvement ◽  
Age Group ◽  
Systemic Involvement ◽  
First Case ◽  
Generalized Dystonia

Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics  age group manifest differently from the adults.  In this case report, Authors have  described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

scholarly journals Acquired smooth muscle hamartoma: A case report on the lower extremity with hidrosis

2019 ◽  
Vol 7 ◽  
pp. 2050313X1989383
Author(s):  
Malika A Ladha ◽  
Todd Remington
Keyword(s):  
Smooth Muscle ◽  
Case Report ◽  
Lower Extremity ◽  
Smooth Muscle Cells ◽  
English Literature ◽  
Surgical Excision ◽  
Muscle Cells ◽  
Clinical Spectrum ◽  
Rare Entity ◽  
First Case

Smooth muscle hamartomas are benign dermal proliferations of smooth muscle cells. Smooth muscle hamartomas are sub-divided into congenital or acquired; the latter is a rare entity with less than 20 cases being reported in the English literature. Most often asymptomatic, acquired smooth muscle hamartomas follow an indolent course. Treatment in the form of surgical excision can be utilized for symptomatic or cosmetic purposes. Here, we report the first case of an acquired smooth muscle hamartomas of the shin which also uniquely presented with hidrosis. This case highlights the varied clinical spectrum of acquired smooth muscle hamartomas.

Preserved myocardial [123 I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: First case report

2005 ◽  
Vol 20 (5) ◽  
pp. 634-636 ◽  
Author(s):  
Masahiko Suzuki ◽  
Nobutaka Hattori ◽  
Satoshi Orimo ◽  
Nobuyoshi Fukumitsu ◽  
Masahiro Abo ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
First Case

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

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