Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

Bourgault, Serge; Baril, Catherine; Vincent, Ajoy; Hèon, Elise; Ali, Asim; MacDonald, Ian M.; Lueder, Gregg T.; Colleaux, Kevin; Laliberté, Isabelle

doi:10.1136/bjophthalmol-2014-305897

Cited by 19 publications

(27 citation statements)

References 22 publications

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“…Her clinical course encourages early metabolic assessment when addressing adolescent behavior disorders and short-interval monitoring for APS. [7][8][9][10][11][12][13][14][15] Our patient's lack of expressed hypoglycemia, electrolyte imbalance other than calcium and phosphorous, or aberrant skin pigmentation supported acute 1-to 2-month development of her adrenal insufficiency. Her hypercalcemia was unusual to associate with her onset of adrenal insufficiency and raised concern for medical compliance.…”

Section: Discussionmentioning

confidence: 99%

“…Her clinical course encourages early metabolic assessment when addressing adolescent behavior disorders and short-interval monitoring for APS. 7-15…”

Section: Discussionmentioning

confidence: 99%

“…Antiretinal antibodies were positive, consistent with the autoimmune etiology of this disorder rarely associated with APS-1. 10 Over the next 2 years, her visual acuity decreased to 20/400 right eye and 20/80 left eye.…”

Section: Case Reportmentioning

confidence: 97%

“…Autoimmune Polyglandular Syndrome Type 1 (APS-1) Clinical Features and Associated Autoantibodies[7][8][9][10][11] .…”

mentioning

confidence: 99%

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Adolescent Anxiety or Polyendocrine Autoimmunity?

Smith

Garla

Moll

et al. 2020

Global Pediatric Health

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The Centers for Disease Control and Prevention mental health 2005 to 2011 report identifies that 13% to 20% of US children experience a mental disorder each year with significant individual and public health, social, and economic consequences. 1 While attention deficit hyperactive disorder is the most common childhood neurobehavioral disorder (estimated prevalence 8.6%), childhood anxiety panic attack disorder (estimated prevalence 4.7%) commonly occurs or is misdiagnosed in presence of other medical conditions that include hyperthyroidism, hyperparathyroidism or abnormal serum calcium levels, pheochromocytoma, vestibular dysfunctions, seizure disorders, and cardiopulmonary conditions. 2-4 Our teen female patient presented with panic attacks unresponsive to psychiatry consultation with short course of selective serotonin reuptake inhibitor therapy. Her family physician obtained basic metabolic blood tests and requested immediate attention of our medical center (University of Mississippi Medical Center [UMMC]) pediatric endocrine service to assess and correct her severe hypocalcemia. This brief report calls attention to symptoms and associated medical conditions to consider early in differential diagnosis and management of adolescent behavior disorders. Our patient's clinical course is unusual in its presentation of panic attack symptoms with hypocalcemia, its rapid 6-month progression of multiple endocrinopathies, and transient hypercalcemia with onset of adrenal insufficiency. We summarize medical literature pertinent to our patient's rare polyendocrinopathy. Methods Our patient received appropriate medical care for her presenting symptoms, diagnoses, and treatment. Her medical chart was reviewed, and all of her health information was de-identified by her attending physicians prior to submission for publication.

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Section: Discussionmentioning

confidence: 99%

“…Her clinical course encourages early metabolic assessment when addressing adolescent behavior disorders and short-interval monitoring for APS. 7-15…”

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 97%

“…Autoimmune Polyglandular Syndrome Type 1 (APS-1) Clinical Features and Associated Autoantibodies[7][8][9][10][11] .…”

mentioning

confidence: 99%

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Adolescent Anxiety or Polyendocrine Autoimmunity?

Smith

Garla

Moll

et al. 2020

Global Pediatric Health

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“…APAH develops in 10% to 40% of patients with APECED, showing variable severity ranging from subclinical chronic active hepatitis to potentially fatal acute liver failure (ALF) (5)(6)(7)(8)(9). Ocular abnormalities are not infrequent; while keratopathy is most frequent, retinopathy may occur (1,(10)(11)(12). APECED is clinically defined based on the presence of at least 2 components of the classical triad; however, these 3 major criteria need not be met, especially when genetic testing demonstrates the mutation or minor criteria are met.…”

Section: Introductionmentioning

confidence: 99%

AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review

et al. 2021

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disorder caused by mutation in the autoimmune regulator (AIRE) gene. Patients usually are diagnosed at ages between 5 and 15 years when they show 3 or more manifestations, most typically mucocutaneous candidiasis, Addison’s disease, and hypoparathyroidism. APECED-associated hepatitis (APAH) develops in only 10% to 40% of patients, with severity varying from subclinical chronic active hepatitis to potentially fatal acute liver failure (ALF). Ocular abnormalities are fairly common, most often keratopathy but sometimes retinopathy. Here we report a 2-year-old Japanese girl with an AIRE gene mutation who developed APAH with ALF, preceded by autoimmune retinopathy associated with anti-recoverin antibody before major symptoms suggested a diagnosis of APECED. Intravenous pulse methylprednisolone therapy followed by a corticosteroid combined with azathioprine treatment resolved ALF and achieved control of APAH. To our knowledge, our patient is the youngest reported to have ALF resulting from an AIRE gene mutation. Pulse methylprednisolone induction therapy followed by treatment with corticosteroid plus azathioprine may well be effective in other children with APAH and AIRE gene mutations.

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