Allgrove syndrome with amyotrophy

2021 ◽  
pp. practneurol-2021-003192
Author(s):  
Míriam Carvalho Soares ◽  
Otávio Gomes Lins ◽  
José Ronaldo Lima de Carvalho ◽  
Cláudia Cristina de Sá ◽  
Vanessa Van der Linden ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Symptomatic Treatment ◽  
Neurological Manifestations ◽  
Dry Eyes ◽  
Allgrove Syndrome

Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. We describe a 25-year-old woman with Allgrove syndrome who had progressive amyotrophy, achalasia, dry eyes and adrenal insufficiency since childhood. Awareness of its neurological manifestations and multisystem features helps to shorten the time for diagnosis and allow appropriate symptomatic treatment.

scholarly journals Sindrome de allgrove en niños. Reporte de 11 casos

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
María Carmen Álvarez López ◽  
Pedro Coello Ramírez ◽  
Elizabeth García Rodríguez ◽  
Mariana Ordoñez Cárdenas ◽  
Fátima Azereth Reynoso Zarzosa
Keyword(s):  
Adrenal Insufficiency ◽  
Genetic Disease ◽  
High Frequency ◽  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Allgrove Syndrome ◽  
Documented Case ◽  
Responsible Gene ◽  
Neurological Alterations ◽  
Chronic Vomiting

Background. Allgrove Syndrome is a very rare genetic disease, which is inherited in an autosomal recessive way. The responsible gene is the AAAS, that encodes the protein ALADIN. It occurs most often in children of consanguineous parents. It is characterized by the classic triad of achalasia, alacrima, and adrenal insufficiency due to resistance to ACTH; the presence of two of the three previous manifestation events are required to establish the diagnosis. There is also a high frequency of the neurologic symptoms. Objective. Describe the clinical characteristics, age of presentation and evolution in 11 patients with Allgrove Syndrome. Methods. 11 clinical cases compatible with Allgrove Syndrome of presentation in childhood are retrospectively reviewed. Results. The average age at diagnosis was 5.9 years (range 1-16 years old). There was a predominance of the female sex (n = 7). The most common symptoms were postprandial vomiting and alacrima, present in 100% of the cases at the time of diagnosis. Adrenal insufficiency was not common; it was only documented in one patient. There was consanguinity between parents in 62.5% of the cases. Conclusions. Allgrove Syndrome is an uncommon cause of dysphagia, chronic vomiting and failure to grow in children. In case of any documented case of achalasia it is suggested to question in a directed way the presence of alacrima and adrenal insufficiency data such as seizures, hyperpigmentation of the skin and neurological alterations.

scholarly journals Allgrove syndrome: how to suspect the problem? Endocrinologists experience

2020 ◽  
Vol 66 (1) ◽  
pp. 64-69
Author(s):  
Natalya I. Volkova ◽  
Ilya Y. Davidenko ◽  
Igor B. Reshetnikov ◽  
Snezhana S. Brovkina
Keyword(s):  
Adrenal Insufficiency ◽  
Neurological Disorders ◽  
Autosomal Recessive ◽  
Clinical Observation ◽  
Pathogenic Mutation ◽  
Multisystem Disease ◽  
Allgrove Syndrome ◽  
Interdisciplinary Interaction ◽  
Over Time

Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome. The patient had a typical clinic: alacrimia, achalasia, adrenal insufficiency, convulsive syndrome. However, a neurological disorder, manifested by convulsive syndrome, passed with time. Despite the full clinical picture, the diagnosis was made only after 14 years. Allgrove syndrome was verified through genetic analysis revealed a pathogenic mutation c.43CT gene AAAS. Progression of the severity of alacrimia and need of glucocorticoids over time was noted. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients.

scholarly journals Involuntary movement in an emotionally labile girl : Think of Wilson’s Disease

2018 ◽  
Vol 6 (1) ◽  
pp. 57-59
Author(s):  
Chowdhury Rifat Niger ◽  
Raj Chowdhury ◽  
Chowdhury Akram Uz Zaman ◽  
Tamzeed Hossain ◽  
Rawshan Arra Khanam
Keyword(s):  
Clinical Features ◽  
Inborn Error ◽  
Biochemical Parameters ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Involuntary Movement ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Neurological Manifestations

Wilson’s Disease (WD) is a rare, autosomal recessive, inborn error of copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic or both, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. Here, we are reporting a 13 years old girl who was affected by Wilson’s disease, with both neurological manifestations & hepatic involvement.Bangladesh Crit Care J March 2018; 6(1): 57-59

scholarly journals Neurological presentation of Wilson’s disease without overt hepatic involvement

2021 ◽  
Vol 8 (3) ◽  
pp. 573
Author(s):  
Sunita Arora ◽  
Arshpuneet Kaur
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disease ◽  
Wilson's Disease ◽  
Neurological Manifestations ◽  
Hepatolenticular Degeneration ◽  
Hepatic Involvement ◽  
Neurological Presentation ◽  
Rare Autosomal Recessive Disease

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive disease. Here, we report a child affected by Wilson disease with only neurological manifestations without hepatic involvement.  

scholarly journals Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

2020 ◽  
Vol 09 (04) ◽  
pp. 285-288
Author(s):  
Mervan Bekdas ◽  
Guray Can ◽  
Recep Eroz ◽  
Selma Erdogan Duzcu
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Bile Secretion ◽  
Peripheral Blood Sample ◽  
Portal Fibrosis ◽  
Traditional Treatment ◽  
Pathogenic Variants ◽  
Chronic Cholestasis ◽  
Whole Exome

AbstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.

scholarly journals Siblings with Bardet Beidl Syndrome

2013 ◽  
Vol 33 (3) ◽  
pp. 236-238
Author(s):  
Ram Peter ◽  
Priya Jose ◽  
MNG Nair
Keyword(s):  
Clinical Features ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
The Body ◽  
Bardet Biedl Syndrome ◽  
Recessive Condition ◽  
Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081   J. Nepal Paediatr. Soc. 2013;33(3):236-238

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

scholarly journals Afibrinogenemia

Pulse ◽  
2011 ◽  
Vol 4 (1) ◽  
pp. 34-35
Author(s):  
Tahera Nazrin ◽  
Pinkoo Attawar ◽  
Md Moniruzzaman ◽  
I Islam
Keyword(s):  
Interventional Procedures ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Management Plan ◽  
Rare Disorder ◽  
Minor Trauma ◽  
Chromosome 4 ◽  
Spontaneous Bleeding ◽  
Excessive Bleeding ◽  
Polypeptide Chains

Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3. Spontaneous bleeding, bleeding after minor trauma, and excessive bleeding during interventional procedures are the principal manifestations [2, 4]. Here we have reviewed the process of diagnosing a case of such rare disorder in Apollo Hospitals Dhaka. We have also highlighted the treatment and management plan of such a case.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6964Pulse Vol.4 January 2010 p.34-35

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