scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

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.

Early onset primary Sjögren syndrome, clinical and laboratory characteristics

2020 ◽  
Vol 39 (9) ◽  
pp. 2689-2696
Author(s):  
Müçteba Enes Yayla ◽  
Zehra Karaman ◽  
Murat Torgutalp ◽  
Ayşe Bahar Keleşoğlu Dinçer ◽  
Emine Gözde Aydemir Gülöksüz ◽  
...  
Keyword(s):  
Early Onset ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Primary Sjögren Syndrome

scholarly journals Immunodeficiency Due to a Unique Protracted Developmental Delay in the B-Cell Lineage

1999 ◽  
Vol 6 (2) ◽  
pp. 161-167
Author(s):  
Armond S. Goldman ◽  
Stephen E. Miles ◽  
Helen E. Rudloff ◽  
Kimberly H. Palkowetz ◽  
Frank C. Schmalstieg
Keyword(s):  
B Cells ◽  
B Cell ◽  
Developmental Delay ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
Cell Lineage ◽  
Autosomal Recessive Disorder ◽  
Immunoglobulin M ◽  
X Chromosomes ◽  
Specific Igg

ABSTRACT A unique immune deficiency in a 24-month-old male characterized by a transient but protracted developmental delay in the B-cell lineage is reported. Significant deficiencies in the number of B cells in the blood, the concentrations of immunoglobulins in the serum, and the titers of antibodies to T-dependent and T-independent antigens resolved spontaneously by the age of 39 months in a sequence that duplicated the normal development of the B-cell lineage: blood B cells followed by immunoglobulin M (IgM), IgG, IgA, and specific IgG antibodies to T-independent antigens (pneumococcal polysaccharides). Because of the sequence of recovery, the disorder could have been confused with other defects in humoral immunity, depending on when in the course of disease immunologic studies were conducted. Investigations of X-chromosome polymorphisms suggested that the disorder was not X linked in that the mother appeared to have identical X chromosomes. An autosomal recessive disorder involving a gene that controls B-cell development and maturation seems more likely. In summary, this case appears to be a novel protracted delay in the development of the B-cell lineage, possibly due to an autosomal recessive genetic defect.

scholarly journals Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

2021 ◽  
Vol 12 (2) ◽  
pp. 106-111
Author(s):  
Gizem Ürel-Demir ◽  
Büşra Aydın ◽  
Beren Karaosmanoğlu ◽  
Özlem Akgün-Doğan ◽  
Ekim Zihni Taşkıran ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Pathogenic Mutation ◽  
Genetic Alterations ◽  
High Rate ◽  
Facial Features ◽  
Psychomotor Delay ◽  
Oculoauriculovertebral Spectrum

Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to <i>UBE3B</i> gene mutations. The vast majority of the affected individuals exhibit microcephaly, eye abnormalities, and typical facial gestalt including blepharophimosis, ptosis, telecanthus, upslanting palpebral fissures, dysplastic ears, and micrognathia. We encountered 2 siblings in whom severe psychomotor delay, distinctive facial features, hearing loss, and respiratory distress were observed. Some clinical manifestations of the patients, including epibulbar dermoid, microtia, and multiple preauricular tags, were reminiscent of the oculoauriculovertebral spectrum. However, 2 affected siblings exhibited a similar clinical picture consisting of microcephaly, severe developmental and cognitive disabilities, failure to thrive, and dysmorphic features, which were not fully consistent with oculoauriculovertebral spectrum. Also, hypoplastic nails, considered as a core manifestation of Coffin-Siris syndrome, were present in our patients. Therefore, whole-exome sequencing was carried out in order to identify the underlying genetic alterations, contributing to the complex phenotype shared by the 2 siblings. A homozygous pathogenic mutation was found in both affected siblings in the <i>UBE3B</i> gene which caused Kaufman oculocerebrofacial syndrome. Kaufman oculocerebrofacial syndrome should be considered among the autosomal recessive causes of blepharophimosis-mental retardation syndromes, particularly in populations with a high rate of consanguineous marriages, even if there are dysmorphic facial features that are not typically associated with the phenotype.

scholarly journals Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report

2020 ◽  
Vol 18 (4) ◽  
pp. 503-506
Author(s):  
Masoud Gharib ◽  
◽  
Roshanak Vameghi ◽  
Mohsen Fallahi ◽  
◽  
...  
Keyword(s):  
Developmental Delay ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Secondary Complications ◽  
Neurodevelopmental Delay ◽  
Cognitive Interventions ◽  
Iranian Children

Beaulieu-Boycott-Innes syndrome (BBIS), an autosomal recessive disorder, is characterized by dysmorphic facial features and developmental delay. In this case study, we used the age and stages questionnaire 2 (ASQ-2) to assess the developmental status of an Iranian 20-month-old girl displaying a complex BBIS phenotype. Rehabilitation interventions were designed and performed focusing on neurodevelopmental delay. Because she had a severe developmental delay and her scores in all five domains of ASQ-2 were below the cut-off points available for Iranian children, the effectiveness of rehabilitation interventions was slower than expected. It seems that early rehabilitation and close follow-up should be considered for these children. We can assume that early and properly sensory-motor and cognitive interventions in these children may lead to growth development and prevent secondary complications.

scholarly journals Enteroendocrine Dysfunction in Two Saudi Sisters

2021 ◽  
pp. 290-295
Author(s):  
Amna Basheer M. Ahmed ◽  
Badr M. Rasheed Alsaleem
Keyword(s):  
Early Diagnosis ◽  
Effective Treatment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Proprotein Convertase ◽  
Whole Exome ◽  
Osmotic Diarrhea ◽  
Symptoms And Signs

Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.

Alkaptonuria

2016 ◽  
Author(s):  
Wendy J. Introne
Keyword(s):  
Clinical Trials ◽  
Heart Disease ◽  
Valvular Heart Disease ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Disorder ◽  
Pigment Deposition

Alkaptonuria is an autosomal recessive disorder with an incidence of 1:250,000 to 1:500,000. Aside from urine that darkens, the disease is relatively asymptomatic in childhood. As a result, the diagnosis is often overlooked early in life and not considered in many patients until they begin to manifest symptoms as adults. Features include pigment deposition (ochronosis) on the eyes, ears, and hands; early-onset, progressive arthritis, particularly of the spine and large joints; valvular heart disease; and renal and prostate stones. Management continues to be symptomatic, but specific treatment with nitisinone appears promising with additional clinical trials being planned.

Papillon-Lefèvre Syndrome: Detrimental Periodontal Condition in the Affected Individuals

2020 ◽  
Author(s):  
Ayesha Hanif
Keyword(s):  
Case Report ◽  
Genetic Mapping ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Periodontal Pathogens ◽  
Cathepsin C ◽  
Periodontal Condition ◽  
Periodontal Destruction

This paper aims to highlight the detrimental periodontal condition in patients with Papillon-Lefèvre syndrome (PLS) and the pivotal role of a Periodontist in the diagnosis of the condition. PLS is also known as palmo-plantar keratosis (PPK) with an unusual periodontal status. Uncontrolled early-onset periodontitis, which affects both primary and permanent dentitions alike, is a hallmark of the syndrome. PLS patients’ exhibit defected neutrophil chemotactic function due to substandard activity of Cathepsin C (CTSC) gene. The result is the failure of elimination of periodontal pathogens that leads to severe periodontal destruction. We reported a case of an 11 years old Pakistani girl affected with PLS whose parents are consanguineously married. Since PLS is a rare autosomal recessive disorder and multiple consanguinity in a family, increases the risk of the occurrence of the syndrome in the off springs, the case report also highlights the importance of pre-marital genetic mapping and conception counseling for the families.

Identification of a novel mutation (C321X) in HJV

Blood ◽  
2004 ◽  
Vol 104 (7) ◽  
pp. 2176-2177 ◽  
Author(s):  
Franklin W. Huang ◽  
Isabel Rubio-Aliaga ◽  
James P. Kushner ◽  
Nancy C. Andrews ◽  
Mark D. Fleming
Keyword(s):  
Family History ◽  
Iron Overload ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Termination Codon ◽  
Compound Heterozygous ◽  
Juvenile Hemochromatosis ◽  
History Of

Abstract Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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