Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c.244C > T, p.Arg82Cys). Detailed demographic, clinical, and molecular data were collected. Cutaneous manifestations were the most common presentation (42%), followed by neurological abnormalities (33%) and immunodeficiency (25%). The most severe manifestation was HLH (33%). Among the 12 patients, three patients (25%) underwent HSCT, and four (33%) died. The cause of death in all four patients was deemed HLH, providing evidence for this complication's fatal nature. Interestingly, two affected patients (16%) were asymptomatic. This report highlights the broad spectrum of clinical presentations of GS2 associated with a founder variant in the RAB27A gene (c.244C > T, p.Arg82Cys). Early suspicion of GS2 among Qatari patients with cutaneous manifestations, neurological findings, immunodeficiency, and HLH would shorten the diagnostic odyssey, guide early and appropriate treatment, and prevent fatal outcomes.
Background. Hypothyroidism is a prevalent endocrine disorder, often presenting with a spectrum of symptoms reflecting a hypothyroid state. It is also generally linked to causing mood swings, psychomotor slowing, and fatigue; however, in rare instances, it may lead to or induce acute psychosis, a condition referred to as myxedema psychosis (MP). We report a case of myxedema psychosis and present a literature review discussing its presentation, diagnosis, management, and prognosis. Case Presentation. A 36-year-old lady presented with one-week history of persecutory and paranoid delusions, along with visual and auditory hallucinations. She had no prior history of psychiatric illnesses. She underwent total thyroidectomy three years before the current presentation due to papillary thyroid cancer. She was not on regular follow-up, nor any specific therapy. On examination, she was agitated and violent. There were no signs of myxedema, and the physical exam was unremarkable. The initial workup showed a mild elevation in serum creatinine. Additional investigations revealed a high thyroid-stimulating hormone (TSH) of 56.6 mIU/L, low free T4<0.5 pmol/L, elevated creatine kinase of 3601 U/L, and urine dipstick positive for blood, suggestive of myoglobinuria. MRI of the head was unremarkable. We diagnosed her as a case of myxedema psychosis and mild rhabdomyolysis. She was started on oral thyroxine 100 mcg/day, fluoxetine 20 mg daily, and as-needed haloperidol. She was closely followed and later transferred to the Psychiatry Hospital for further management. Within one week, her symptoms improved completely, and she was discharged off antipsychotics with additional scheduled follow-ups to monitor TFTs and observe for any recurrence. Discussion and Conclusion. Myxedema psychosis is a rare presentation of hypothyroidism—a common endocrine disorder. Scarce data are describing this entity; hence, there is currently a lack of awareness amongst clinicians regarding proper identification and management. Moreover, the atypical nature of presentations occasionally adds to a diagnostic dilemma. Thus, any patient with new-onset psychosis should be screened for hypothyroidism, and awareness of this entity must be emphasized amongst clinicians and guideline makers.
Background. The shift of Graves’ disease (GD) to Hashimoto’s disease- (HD-) related hypothyroidism is well established. However, the opposite is rare. This is likely to the loss of critical thyroid mass available for stimulation by thyroid hormone receptor stimulating antibody, making this shift unusual. Herein, we report a young lady with a late shift from HD into GD and present a scoping literature review. Case presentation. We report a twenty-five-year-old lady with a sixteen-year-history of Hashimoto’s-related hypothyroidism stable on levothyroxine. While following in the clinic, she started developing thyrotoxic symptoms in the form of anxiety, weight loss, and palpitation. Physical examination was remarkable for mild exophthalmos. The thyroid function test confirmed hyperthyroidism. Levothyroxine-induced hyperthyroidism was initially suspected; however, the symptoms did not improve despite reducing and stopping levothyroxine. Subsequent workup confirmed the diagnosis of GD. Discussion and Conclusion. This case highlights a unique association that has significant diagnostic and management implications. This shift should be considered when hyperthyroidism persists despite reducing or stopping levothyroxine. The diagnosis is made utilizing antibody titers and radioiodine update scan. While the management depends on the disease’s stage and the treating physician preference, antithyroid agents can be used initially. Following up these patients is essential as the shift can be transient.
A 23-year-old lady presented with vertigo and imbalance in walking, blurring of vision, diplopia, and headache, in addition to numbness in the lower limbs over a period of six days. On examination patient had nystagmus, ataxia, positive Romberg test, and hyperreflexia. MRI examination of the brain and spinal cord showed evidence of faint bright signal intensity foci in T2/FLAIR involving bilateral cerebral hemispheres, subcortical deep white matter, bilateral thalami, posterior pons and left brachium pontis, and basal ganglia, with small nodular enhancement that aligned along curvilinear structures; those lesions also were apparent along the spinal cord at multiple levels. The clinical and radiological features suggested CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) syndrome. Symptoms improved dramatically with high dose oral corticosteroids. Our report addresses the radiological and clinical pattern of a case of CLIPPERS rhombencephalitis, with added superior and inferior extension to involve the brain and spinal cord, which is to emphasize the importance of raising the awareness of this disease and the combined role of radiologist and physicians for the diagnosis of this potentially treatable entity, responsive to glucocorticosteroid immunosuppression.
Background: Type 2 diabetes mellitus has been found to be associated with 25(OH)D (vitamin D) deficiency. The aim of this study was to the prevalence of vitamin D deficiency in T2DM patients in Qatar and the correlation between vitamin D deficiency and other variables such as dyslipidemia and glycemic control and microalbuminuria. Methods: This retrospective cross-sectional analytical study was carried out at the Hamad General Hospital medical outpatient clinic, in which adult patients (? 18 years) with type 2 DM were involved, between January 1, 2018, and July 31, 2018. Ethical approval was obtained from medical research committee. Results: We recruited 400 subjects with type 2 diabetes mellitus. Their mean age was 58.97±10.32 years and the majority were women (52.0%) and Arabs (69.5%). The mean duration of type 2 diabetes diagnosis was 14.94±8.99 years and mean. The prevalence of vitamin D deficiency was 29.5%. A comparison between vitamin D deficiency and non-vitamin D deficiency groups, showed a statistically significant difference in terms of fasting blood sugar (P<0.001), random blood sugar (P<0.001), HBA1c (P<0.001), total cholesterol (P=0.001), LDL (C) (P=0.004), HDL (C) (P<0.001), triglyceride (P<0.001), and Urinary Albumin Excretion Rate (P=0.007). Data analysis showed that a significant negative correlation was found between vitamin D level and fasting blood sugar (r= -0.208, P<0.001), random blood sugar (r= -0.20, P<0.001), HBA1c (r= -0.260, P<0.001), total cholesterol (r= -0.218, P<0.001), LDL (C) (r= -0.176, P=0.004), triglyceride (r= -0.342, P<0.001), and Urinary Albumin Excretion Rate (r= -0.184, P=0.007). Conclusion: Our study showed a significant correlation between vitamin D deficiency and the poor control of T2DM, dyslipidemia, and microalbuminuria. The results emphasize the importance of monitoring vitamin D status in high-risk populations.
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