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Allgrove syndrome: Case report of 18 years old male:the first case report from Syria

ABSTRACT: Triple A syndrome 3A (Allgrove syndrome) is a rare autosomal recessive multiorgans dysfunction characterized by alacrima, achalasia which is the absence of esophageal muscle peristalsis and lower sphincter failure to relax and adrenal insufficiency. About third of patient additional features like neurological and autonomic manifestations reported (making the syndrome 4A), the spectrum of neurological symptoms varies including gait disturbances, parkinsonism, muscle wakeness, mental retardation, peripheral sensory and motor neuropathy. Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive. Assessment of ACTH, cortisol, ACTH stimulation test confirmed he had adrenal insufficiency and physical examination showed he had foots deformity due to muscular atrophy caused by neuropathy.treatment performed by managing symptoms of the condition(replacement of glucocorticoids, surgical correction of achalasia, artificial tears).The follow-up was over a period of 6 months and we noted a great improvement of patient's condition. Highlights • Allgrove A syndome is the combination of ACTH-resistant cortisol deficiency, achalasia, and absent lacrimation.• AAA syndrome, is a rare autosomal recessive endocrine disorder.• About third of patient additional features like neurological and autonomic manifestations reported.• Triple A syndrome should be expected in any child presents with one of the three cardinal features.

SUBMITTER: Hanino N

PROVIDER: S-EPMC8600000 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Introduction and importance Double gallbladders are a rare anomaly occur in biliary system during the fetal life. In most cases they are asymptomatic, but in few patients, they can progress as a sever disease. Preoperative diagnose is essential in order to prevent surgery complexities and prevent the undesired complications. Case presentation We described a typical case of symptomatic duplicate gallbladder in a 42-year-old man who suffered from chronic abdominal symptoms without determining the cause. The accessory gallbladder was discovered by imagining screening tools which included ultrasound and magnetic resonance cholangiopancreatography and was treated successfully with laparoscopic cholecystectomy, where both gallbladders were removed without any complications. Clinical discussion Double gallbladder are rare abnormality occur in fetal life during the fifth and sixth weeks of pregnancy. In most cases they show zero symptoms and can be easily wandered off during typical preoperative screening. Therefor many diagnostic tools were developed to investigate this anomaly in order to prevent its unwanted outcomes and to help the surgeon in deciding the best surgical approach for each presenting case. Conclusion In order to prevent complications during surgery, it is vital that we investigate the presence of a double gallbladder in a surgical patient before the procedure. Highlights • The presence or absence of sickness in accessory gallbladder depends on the presence or absence of complications which are caused by the same Pathogenic factors that are indicted in complicated mono gall bladder.• As ultrasounds can be limited in distinguishing bilobed gallbladder and real duplication, a following MRI should be performed for better investigating and evaluation.• In accidental cases, both gallbladders should be considered if the surgical approach was approved.• In H-type double gallbladder intervention there is a high potential to damage the biliary ducts and arteria hepatica.

Project description:BackgroundLarsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-β) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders.Case presentationA 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1.ConclusionLDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

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Allgrove syndrome: Case report of 18 years old male:the first case report from Syria

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