Autoimmune Polyglandular Syndrome Type II presenting as Subacute Combined Degeneration of Spinal Cord: A Neuroendocrinology Crossroad

Abstract Introduction - Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. The basic pathophysiology of this syndrome revolves around autoimmunity. Case Presentation - We present a 50 year old gentleman who presented to us in emergency with subacute onset progressive weakness of both lower limbs followed by upper limbs. On examination, patient was confused and disoriented. General examination findings include hypotension, pallor, facial puffiness and vitiligo. Neurological examination revealed spasticity and motor weakness in all four limbs with extensor planter response. Sensory examination during hospital course revealed posterior column involvement. Laboratory and radiological investigations confirmed subacute combined degeneration of spinal cord secondary to pernicious anaemia, Addison’s disease and autoimmune thyroid disease. The final diagnosis of autoimmune polyglandular syndrome type II was made after fulfilment of the required criteria. Conclusion – Autoimmune polyglandular syndrome type II can rarely present to neurologist as subacute combined degeneration of spinal cord. This syndrome and its systemic association should be kept in mind in order to reach the final diagnosis.

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Late Presentation of Neglected Autoimmune Polyglandular Syndrome

Journal of Advances in Medicine and Medical Research ◽

10.9734/jammr/2021/v33i2031120 ◽

2021 ◽

pp. 176-182

Author(s):

Rania Alsayed Murad ◽

Ashraf Alakkad ◽

Anwar Adwan ◽

Mikdam Al Ramahi

Keyword(s):

Diabetes Mellitus ◽

Blood Glucose ◽

Adrenal Insufficiency ◽

Autoimmune Diabetes ◽

Syndrome Type ◽

Type Ii ◽

Diabetes Mellitus Type Ii ◽

Autoimmune Thyroid ◽

Autoimmune Polyglandular Syndrome ◽

Autoimmune Polyglandular Syndrome Type

A 60-year-old male patient, weighing 40 kg, having a BMI of 13, who was also a known case of Diabetes Mellitus Type II was shifted to the Orthopaedic Ward last month due to a fall, which led him to develop an intertrochanteric fracture in the femur. While the treatment of the patient was in an ongoing status for his fracture, his Diabetes was seen to be poorly controlled, with his blood glucose levels being constantly evaluated to be in a state of severe hypoglycaemia to slightly increased levels of blood glucose. On examination, the patient showed clear signs of being malnourished. He was in a bad and dishevelled state, he had creases on the palmar aspects of his hands and hyperpigmentation on his buccal mucosa. Furthermore, his lab reports revealed abnormalities in nearly every lab test ordered. Not only did he have elevated ACTH levels, but there was also a failure of Cortisol stimulation. His DEXA Scan showed that he was predisposed to develop severe osteoporosis and his malnourished condition was supportive of promoting that condition even more. The patient was diagnosed to be suffering from Autoimmune Polyglandular Syndrome, Type II. This is a rare condition of one of its kind where there is a pre-existence of autoimmune adrenal insufficiency along with either autoimmune thyroid disease or autoimmune diabetes mellitus. Since this condition is rare, it tends to often get overlooked upon diagnosis, leading to misdiagnosis because almost all of the presenting features or the symptoms of the prevalent endocrinological disorders present in this condition mimic either hypothyroidism, or diabetes, or adrenal insufficiency alone, and thus lead to further consequences when the condition does not resolve despite persistent treatment, such as the case in this patient. This paper reviews the background of the patient and the causes that possibly could have made him reach this advanced stage of the disease. The paper also reflects upon the disease, Autoimmune Polyglandular Syndrome Type II, as a whole and elaborates on the symptoms and signs which the patient tens to confuse with other endocrinological diseases. Lastly, this paper shall also review the appropriate management plan for the patient to ease his symptoms and accelerate his recovery process.

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Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0506 ◽

2020 ◽

Vol 33 (4) ◽

pp. 575-578

Author(s):

Lena Schulz ◽

Elke Hammer

Keyword(s):

Type I Diabetes ◽

Thyroid Stimulating Hormone ◽

Graves Disease ◽

Type I ◽

Syndrome Type ◽

Type Ii ◽

Autoimmune Thyroid ◽

Autoimmune Polyglandular Syndrome ◽

Autoimmune Polyglandular Syndrome Type ◽

Low Cortisol

AbstractBackgroundAutoimmune polyglandular syndrome type II (APS II) is defined as the combination of autoimmune adrenal insufficiency and autoimmune thyroid disease (AITD) and/or type I diabetes mellitus (T1DM) in the same patient.Case presentationA 15-year-old boy had a history of weight loss, nausea and vomiting, headache, restlessness, and tanned skin. He was diagnosed with Graves’ disease. Two weeks after carbimazol therapy was commenced, he presented with adrenal crises (fever, arterial hypotension, hyponatremia, adrenocorticotropic hormone [ACTH] 1119.6 ng/mL [normal range <60] and low cortisol). He received hydrocortisone and fludrocortisone, and improved quickly. Thyroid-stimulating hormone (TSH) receptor autoantibodies as well as 21-hydroxylase antibodies were elevated.ConclusionsAlthough the combination of Graves’ and Addison’s disease is extremely rare, especially in children, it is critical to make the diagnosis. Accelerated metabolic rate increased the risk for adrenal crises in our patient. This case contributes to the spectrum of APS II and its manifestation.

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