Triple A syndrome: a case report

2020 ◽  
pp. 004947552096194
Author(s):  
Piyush Manoria
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Morbidity And Mortality ◽  
Adrenal Failure ◽  
Triple A Syndrome ◽  
Rare Autosomal Recessive Disorder ◽  
High Degree

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis

2021 ◽  
Vol 36 ◽  
pp. 57-59
Author(s):  
Pooja Shashidhar Wali ◽  
Preetham Tauro ◽  
Pavan Hegde ◽  
Habeeb Ullah Khan ◽  
M. D Jaidev
Keyword(s):  
Metabolic Acidosis ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Biotinidase Deficiency ◽  
Unusual Presentation ◽  
Anion Gap ◽  
Morbidity And Mortality ◽  
Infantile Seizures

Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement.

scholarly journals Odontostomatological Findings in Heimler Syndrome: A Case Report

Proceedings ◽  
2019 ◽  
Vol 35 (1) ◽  
pp. 51
Author(s):  
Romano ◽  
Barillari ◽  
Lajolo ◽  
Vella ◽  
Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder

Heimler syndrome (HS) is rare autosomal-recessive disorder. [...]

scholarly journals Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

2020 ◽  
Author(s):  
Musallam Al-Araimi ◽  
Nishath Hamza ◽  
Aliya Al-Hosni ◽  
Ashwaq Al Maimani
Keyword(s):  
Case Report ◽  
Middle East ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Marriage Rate ◽  
Rare Autosomal Recessive Disorder ◽  
Middle East Countries ◽  
Novel Variant ◽  
First Time

AbstractSpondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies.

scholarly journals Meckel Gruber Syndrome: a rare case report

2017 ◽  
Vol 5 (1) ◽  
pp. 262
Author(s):  
Manish Verma ◽  
Shruti Sharma ◽  
Kiran Suthar ◽  
Beena Thada
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Disorder ◽  
Polycystic Kidneys ◽  
Rare Autosomal Recessive Disorder ◽  
Live Births ◽  
Rare Case Report

Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features.

scholarly journals Anesthesic Management for Escobar Syndrome: Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Ayse Hande Arpaci ◽  
Fusun Bozkirli ◽  
Onur Konuk
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Spinal Deformity ◽  
Growth Retardation ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Flexion Contracture ◽  
Rare Autosomal Recessive Disorder ◽  
Lung Capacity ◽  
Joint Flexion

Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration.

scholarly journals Severe haemoptysis in a 5 year old child with Kartagener’s syndrome: case report

2020 ◽  
Vol 7 (2) ◽  
pp. 462
Author(s):  
Mohinish S. ◽  
Mallesh K. ◽  
Prashanth H. K. ◽  
Ravichandra K. R.
Keyword(s):  
Case Report ◽  
Male Infertility ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Kartagener's Syndrome ◽  
Glue Ear ◽  
Ciliary Dyskinesia

Kartagener`s syndrome, a rare autosomal recessive disorder is a type of Primary Ciliary Dyskinesia (PCD) associated situs inversus, bronchiectasis, sinusitis and male infertility. We present a case of a 5-year-old girl who came with features of bilateral glue ear, recurrent sinusitis, recurrent hemoptysis and dextrocardia. She was diagnosed to have Kartagener`s syndrome and was evaluated for recurrent hemoptysis.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (1) ◽  
pp. 135-137
Author(s):  
Renata Hubner Frainer ◽  
Luciana Boff de Abreu ◽  
Giselle Martins Pinto ◽  
André Vicente Esteves de Carvalho ◽  
Luana Pizarro Meneghello
Keyword(s):  
Macular Degeneration ◽  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Recognition ◽  
Association Studies ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy ◽  
Rare Autosomal Recessive Disorder ◽  
Ocular Defect ◽  
Eye Examination

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.

scholarly journals Multiple Nail Candidosis in a Child with APECED Syndrome

2019 ◽  
Vol 4 (1) ◽  
pp. 01-01
Author(s):  
Chaouche M ◽  
Dah Cherif A ◽  
Barbach Y ◽  
Gallouj S ◽  
Mernissi FZ
Keyword(s):  
Early Childhood ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Tissue Specific ◽  
Rare Autosomal Recessive Disorder ◽  
Mucocutaneous Candidiasis ◽  
Classic Triad ◽  
Autoimmune Polyendocrinopathy ◽  
Dermatological Disorders

The APECED syndrome (autoimmune polyendocrinopathy, candidosis, ectodermal dystrophy) is a rare autosomal recessive disorder that develops in early childhood and results in tissue-specific multiorgan autoimmunity, leading to the hypofunction of multiple glands. Is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. We report a case in a child, illustrating the importance of dermatological disorders.

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