Allgrove syndrome with amyotrophy

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.

Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting

Objectives Primary adrenal insufficiency (PAI) in children is an uncommon condition. Congenital adrenal hyperplasia (CAH) is the commonest cause followed by autoimmune disorders. Diagnosis and management are challenging especially in resource-limited settings. Studies from Africa are scanty and here we describe for the first time the clinical presentation, possible etiologies, and challenges in diagnosis and management of PAI in a large cohort of Sudanese children. Methods This was a descriptive hospital-based study where all patients diagnosed with PAI between 2006 and 2020 were reviewed. The diagnosis was based on clinical presentation, low morning cortisol ± high adrenocorticotropic hormone (ACTH), or inadequate response of cortisol to synacthen stimulation. Challenges faced in diagnosis and management were identified. Results From 422 PAI suspected patients, 309 (73.2%) had CAH, and 33 (7.8%) had PAI-like symptoms and were not furtherly discussed. Eighty patients (19%) had fulfilled the study criteria: 29 had Allgrove syndrome, nine auto-immune polyendocrinopathy syndrome, seven adrenoleukodystrophy, and one had an adrenal hemorrhage. Hyperpigmentation was the cardinal feature in 75 (93.8%) while the adrenal crisis was not uncommon. Lack of diagnostic facilities has obscured the etiology in 34 (42.5%) patients. Conclusions PAI is not uncommon in Sudanese children where genetic causes outweigh the autoimmune ones. Many cases were missed due to nonspecific presentation, lack of awareness, and difficult access to tertiary health care facilities. In addition to the clinical findings, early morning cortisol ± ACTH levels can be used in diagnosis where facilities are limited particularly synacthen stimulation test.

Allgrove syndrome: a case report

Allgrove syndrome is an autosomal recessive disease which is characterized by Achalasia, Alacrimia and ACTH-resistant Adrenal deficiency with progressive neurological manifestations. Allgrove syndrome is caused due to mutations in AAAS gene, localized on chromosome 12q13. This report relates to an 8 years old female child who had complaints of vomting, fever, cough, hyperpigmentation and poor weight gain. Barium swallow, ophthalmic examination and ACTH stimulation test proves that patient has Allgrove’s syndrome. Management consisted of initiation of cortisone therapy which was successful in improving the hyper pigmentation. Patient was planned for surgical intervention for achalasia cardia on follow-up. Allgrove’s syndrome may be an under diagnosed disorder. High index of suspicion is needed when patients present with such complex symptoms. Diagnosing and timely intervention helps in reducing the morbidity and mortality.

Achalasia of the cardia in Allgrove syndrome in an 8-year-old child

Introduction. The authors present a clinical case of an 8-year-old patient with an extremely rare Allgrove’s syndrome and cardia achalasia. By various authors, in case of this syndrome, achalasia of the cardia is diagnosed in 75% of cases, along with other symptoms. Currently, there are a number of modalities for treating achalasia of the cardia. However, the most popular one is cardiomyotomy by Heller in combination with fundoplication by Dor which recently has been successfully performed with minimally invasive laparoscopic techniques.Clinical case. In present case, the patient had all possible minimally invasive surgical interventions. However, all attempts to apply organ-preserving techniques for treating achalasia of the cardia had failed .Results. Finally, the child had esophageal plastic surgery – coloesophagoplasty with good clinical outcomes.