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

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.

Subacute combined degeneration of spinal cord – the only manifestation in an otherwise “normal” vitamin B12 deficient patient.

Sub acute combined degeneration (SACD) is a myelopathy associated with vitamin B12 deficiency. Vitamin B12 deficiency may present with neurological and/or hematological features - neurological features commonly presenting at a later stage than hematological changes. Our case is an unusual presentation of SACD without anemia

The dangers of recreational inhalation of nitrous oxide

Nitrous oxide, also known as ‘laughing gas’, is one of the most widely used recreational drugs among teenagers in the UK. Copious inhalation of nitrous oxide may increase intra-alveolar pressure, resulting in barotrauma secondary to alveolar rupture. Pneumomediastinum and subcutaneous emphysema are common clinical findings in nitrous oxide-associated barotrauma. Prolonged nitrous oxide misuse may inactivate vitamin B12 through the alteration of its metabolism, causing demyelination of the central and peripheral nervous system. A spectrum of neurological manifestations has been reported, including peripheral neuropathy, myelopathy and subacute combined degeneration of the spinal cord. Medical therapies and psychosocial interventions aiming at nitrous oxide cessation are important treatment steps to achieve partial or complete recovery from the adverse effects associated with inhalation of nitrous oxide.

Serum copper decrease and cerebellar atrophy in patients with nitrous oxide-induced subacute combined degeneration: two cases report

Background Subacute combined degeneration (SCD) is a neurological complication commonly associated with vitamin B12 deficiency. It can result from nitrous oxide (N2O) abuse and cause neuropsychiatric symptoms. However, there has been no literature regarding alterations of serum copper and cerebellum in SCD patients. Case presentation We reported two cases of young SCD patients with histories of N2O abuse. In these cases, elevated homocysteine, macrocytic anemia, spinal cord abnormalities, and peripheral nerve injuries were detected. In addition, decreased serum copper level and cerebellar atrophy were reported for the first time. The patients’ symptoms improved after withdrawal of N2O exposure and vitamin B12 supplements. Conclusion We reported two SCD cases with serum copper alteration and cerebellar atrophy after N2O abuse for the first time. These might be crucial complements to the diagnosis of SCD.

Subacute Combined Degeneration Associated with Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism

Subacute combined degeneration (SCD) is a metabolic disease caused by deficiency of vitamin B12. Rarely, it could be associated with genetic problem. An old male presented with progressive both hands weakness. Laboratory study showed deficiency of vitamin B12, but the cause was not clear. We performed a genetic study and methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism with 30% of normal enzyme activity was confirmed. This case suggests SCD may occur in association with a genetic problem with MTHFR C677T polymorphism.

Myelopathy associated with intrathecal methotrexate

A 21-year-old man developed progressive and bilateral lower limb numbness, gait impairment and urinary incontinence over 10 days. He had received intrathecal methotrexate 20 days previously for acute lymphoblastic B-cell leukaemia, following 7 months of systemic chemotherapy. MR scan of the spinal cord showed bilateral symmetric and extensive T2/fluid attenuated inversion recovery (FLAIR) increased signal involving the dorsal columns in the thoracic cord. His serum folate concentration was at the lower end of the normal range. We stopped the intrathecal chemotherapy and gave folate; after a few days, he progressively improved. Myelopathy is an important adverse effect of intrathecal methotrexate, which may cause clinical and imaging features resembling subacute combined degeneration of the spinal cord. CNS infiltration must be excluded, intrathecal chemotherapy stopped and deficiency of folate or vitamin B12 treated as appropriate.