scholarly journals Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

2020 ◽  
Vol 6 (1) ◽  
pp. 20190047
Author(s):  
Giuseppina Dell'Aversano Orabona ◽  
Clemente Dato ◽  
Mariano Oliva ◽  
Lorenzo Ugga ◽  
Maria Teresa Dotti ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Imaging Study ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Acid Synthesis ◽  
Cerebrotendinous Xanthomatosis ◽  
Imaging Findings ◽  
Cholic Acids ◽  
Ct And Mri

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic acids. In CTX, cholic acid synthesis is impaired, leading to accumulation of the precursor chenodessossicholic acid) in various organs and tissues. The clinical manifestations of CTX include chronic diarrhea, early-onset cataracts, tendon xanthomas and neurological disturbances. Therapy with oral chenodessossicholic acid has been shown to provide significantly better outcomes for affected individuals; therefore, recognition of this disease and awareness of its suggestive instrumental signs is extremely important. In this study, we describe the imaging findings in a 43-years-old male who was diagnosed with CTX and studied through ultrasound, CT and MRI. It is important that the neurology and radiology communities are aware of this multi-imaging findings: recognition of them is important, as due to the high variability of the manifestation of this disease; it could impact on early diagnosis of a condition rarely seen, but manageable.

scholarly journals A rare case of protein C mutation causing neonatal purpura fulminans

2021 ◽  
Author(s):  
Abdul Tawab ◽  
Madhu George ◽  
Jino Joseph ◽  
Ann Mary Zacharias
Keyword(s):  
Protein C ◽  
Autosomal Recessive ◽  
Purpura Fulminans ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Fresh Frozen Plasma ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Proc Gene

Congenital protein C deficiency presenting as purpura fulminans is a rare condition in neonates. It is a disorder with autosomal recessive inheritance and is caused by homozygous or compound heterozygous mutations in PROC gene. The authors report a case of autosomal homozygous PROC gene transversion mutation in a newborn baby born to third degree consanguineous parents who presented as purpura fulminans at birth. She had almost undetectable protein C levels. As protein C concentrate was not readily available, she was managed with low molecular weight heparin along with fresh frozen plasma. Despite our best efforts, baby succumbed to her illness on day 21 of life.  Autosomal recessive protein C deficiency should always be sought as an explanation for thrombotic disorders in the newborn with manifestations of disseminated intravascular coagulation.

scholarly journals The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Poulami Majumder ◽  
Vineet Nair ◽  
Malancha Mukherjee ◽  
Sujoy Ghosh ◽  
Subrata Kumar Dey
Keyword(s):  
Surgical Treatment ◽  
Medical History ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Chief Complaint ◽  
Gingival Tissue ◽  
Recessive Inheritance ◽  
Inheritance Pattern ◽  
Gingival Fibromatosis

Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate the autosomal recessive inheritance pattern of HGF. Hereditary gingival fibromatosis is an idiopathic condition as its etiology is unknown and it was found to recur in some cases even after surgical treatment. Both patients underwent thorough oral prophylaxis and later surgical therapy to correct the deformity.

scholarly journals Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Kai Yang ◽  
Ming Shen ◽  
Yousheng Yan ◽  
Ya Tan ◽  
Jing Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Inheritance ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Skeletal Dysplasias ◽  
Whole Exome ◽  
Quantitative Fluorescence

Skeletal dysplasias (SDs) comprise a series of severe congenital disorders that have strong clinical heterogeneity and usually attribute to diverse genetic variations. The pathogenesis of more than half of SDs remains unclear. Additionally, the clinical manifestations of fetal SDs are ambiguous, which poses a big challenge for accurate diagnosis. In this study, eight unrelated families with fetal SD were recruited and subjected to sequential tests including chromosomal karyotyping, chromosomal microarray analysis (CMA), and trio whole-exome sequencing (WES). Sanger sequencing and quantitative fluorescence PCR (QF-PCR) were performed as affirmative experiments. In six families, a total of six pathogenic/likely pathogenic variations were identified in four genes including SLC26A2, FGFR3, FLNB, and TMEM38B. These variations caused disorders following autosomal dominant or autosomal recessive inheritance patterns, respectively. The results provided reliable evidence for the subsequent genetic counseling and reproductive options to these families. With its advantage in variation calling and interpreting, trio WES is a promising strategy for the investigation of fetal SDs in cases with normal karyotyping and CMA results. It has considerable prospects to be utilized in prenatal diagnosis.

scholarly journals Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Qing-Qing Tao ◽  
Yun Zhang ◽  
Hui-Xia Lin ◽  
Hai-Lin Dong ◽  
Wang Ni ◽  
...  
Keyword(s):  
Chinese Population ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Cerebrotendinous Xanthomatosis ◽  
Chinese Patients ◽  
Lipid Storage Disease ◽  
Genetic Characteristics ◽  
Pathogenic Mutations ◽  
Autosomal Recessive Pattern

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population. Results Three novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment. Conclusion Our study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.

scholarly journals Autoimmune polyglandular syndrome type I. Features of clinical manifestations, difficulties in diagnosis and methods of correction

2021 ◽  
Vol 12 (4) ◽  
pp. 67-73
Author(s):  
G. A. Galkina ◽  
L. S. Mikhailichenko ◽  
D. I. Sozaeva ◽  
S. B. Berezhanskaya ◽  
A. A. Afonin
Keyword(s):  
Autosomal Recessive ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Diagnostic Algorithm ◽  
Autosomal Recessive Inheritance ◽  
Type I ◽  
Autoimmune Polyglandular Syndrome ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type ◽  
The Moment

Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood. The disease is characterized by a wide variety of clinical manifestations with a certain stage in the manifestation of individual symptoms. The rare occurrence of this pathology determines its late diagnosis, which can lead to the decompensated life-threatening conditions and an unfavorable outcome. Widely informing pediatric specialists will contribute to the development of a diagnostic algorithm for timely verifying the disease from the moment its first clinical manifestations appear, and will improve the quality and life expectancy of the patients. 

scholarly journals Genetic testing for cystic hygroma

2018 ◽  
Vol 2 (s1) ◽  
pp. 22-25 ◽  
Author(s):  
Paolo Enrico Maltese ◽  
Yeltay Rakhmanov ◽  
Alessandra Zulian ◽  
Angelantonio Notarangelo ◽  
Matteo Bertelli
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Lymphatic System ◽  
Clinical Manifestations ◽  
Autosomal Recessive Inheritance ◽  
Cystic Hygroma ◽  
Recessive Inheritance ◽  
Live Births ◽  
Abnormal Accumulation ◽  
Gene Test

AbstractCystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance

2004 ◽  
Vol 25 (3) ◽  
pp. 227-236 ◽  
Author(s):  
Maria Frasson ◽  
Nassim Calixto ◽  
Sebastião Cronemberger ◽  
Regina Amélia Lopes Pessoa de Aguiar ◽  
Letícia Lima Leão ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Oculodentodigital Dysplasia

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

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