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.

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.

Urinary Retention Due to Severe Pseudocystic Mucoid Degeneration of the Prostatic Matrix: A Rare Urologic Manifestation of Cystic Fibrosis

2015 ◽  
Vol 95 (4) ◽  
pp. 486-488
Author(s):  
Gesa Kellermann ◽  
Aristotelis G. Anastasiadis ◽  
Desirée L. Dräger ◽  
Friedrich Prall ◽  
Oliver W. Hakenberg
Keyword(s):  
Cystic Fibrosis ◽  
Urinary Retention ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Structural Changes ◽  
Histopathological Examination ◽  
Underlying Disease ◽  
Exocrine Glands ◽  
Mucoid Degeneration ◽  
Prostatic Enlargement

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is characterized by the production of thick mucus in exocrine glands. The main cause for morbidity and mortality in CF patients is respiratory failure. The gastrointestinal system is also commonly affected. Urologic manifestations of CF include infertility and azoospermia, nephrolithiasis, and stress urinary incontinence. In this report, we describe a 33-year-old male, who presented with recurrent urinary retention due to prostatic enlargement despite his young age. After transurethral resection, the voiding problems resolved. Histopathological examination, however, revealed a severe pseudocystic mucoid degeneration of the prostatic matrix as a cause of his subvesical obstruction. Although these structural changes are most probably due to his underlying disease, detailed histologic features have not been described in the literature.

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.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

scholarly journals Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Adele Latina ◽  
Massimo Terzolo ◽  
Anna Pia ◽  
Giuseppe Reimondo ◽  
Elena Castellano ◽  
...  
Keyword(s):  
Postmenopausal Woman ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Genetic Disease ◽  
Hip Replacement ◽  
Acute Intermittent Porphyria ◽  
Adrenal Hemorrhage ◽  
Primary Adrenal Insufficiency ◽  
Threatening Condition ◽  
Life Threatening

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.

scholarly journals Congenital Insensitivity to Pain: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Genetic Disease ◽  
Autosomal Recessive ◽  
Lumbosacral Spine ◽  
Review Of The Literature ◽  
Secondary Complications ◽  
Congenital Insensitivity ◽  
Electrophysiological Studies ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain ◽  
Spine Disease

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in theSCN9Agene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.

scholarly journals Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

2020 ◽  
Vol 12 (1) ◽  
pp. 64-69
Author(s):  
Akshay Flora ◽  
Annika Smith
Keyword(s):  
Genetic Disease ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Correct Diagnosis ◽  
Hair Shaft ◽  
Cutaneous Inflammation ◽  
Erythrodermic Psoriasis ◽  
Timely Fashion ◽  
Congenital Ichthyosiform Erythroderma

Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. The chronicity and severity of NS adversely affects a patient’s quality of life to a large extent. It Is therefore important that this condition is identified early, and treatment to reduce cutaneous inflammation is initiated in a timely fashion. However, due to this condition being relatively rare, a lack of awareness may lead clinicians to misdiagnose it as atopic dermatitis or undifferentiated psoriasis. Clinicians should therefore be aware of the peripheral stigmata that this disease may present as in adulthood, so that a correct diagnosis can be made if it was previously missed. Here we present a case of two male siblings from Jordon who were misdiagnosed since childhood as having erythrodermic psoriasis. Clinical examination of one of the siblings, as an adult, revealed multiple peripheral features associated with NS. Genetic analysis through sanger sequencing was also able to identify a mutation in the SPINK5 gene, confirming the diagnosis.

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