Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.

Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Her blood film revealed thrombocytosis that on further evaluation by bone marrow biopsy was confirmed to be a myeloproliferative neoplasm (MPN); essential thrombocytosis (ET). She also had skin lesions that were proven to be reactive perforating collagenosis and necrobiosis lipoidica diabeticorum. She was managed conservatively and received interferon injections with fair general condition and control of her ET. However, her kidney function deteriorated furthermore to stage V chronic kidney disease requiring regular treatment with hemodialysis. We believe this is a unique case of Berardinelli-Seip syndrome with MPN that could be a coincidental association or part of a new syndrome.

The risk of thyroid carcinoma in multinodular goiter compared to solitary thyroid nodules: A retrospective analysis of 600 patients.

BACKGROUND: It is generally believed that multinodular goiter (MNG) is associated with a lower risk of malignancy compared to solitary thyroid nodules (STN). This will be the null hypothesis in this retrospective study and we aim to prove or reject it. METHODS: Medical files and histopathology reports of 600 patients who underwent thyroidectomy over 4-year period were reviewed. Data including patient' age, gender, presentation, ultrasonography, FNAC, surgical procedures, final histopathologic diagnosis and stage of malignant tumors were collected and analyzed. The primary end point was assessment of risk of thyroid carcinoma in patients with MNG compared to those with STN. Secondary endpoints included demographic differences and prognosis. RESULTS: There were 459 females (76.5%). Mean age was 44.3 ± 14.5 years (range 14-85). After exclusion of 33 patients, 224 (39.5%) had STN and 343 (60.5%) had MNG. The prevalence of thyroid cancer was 41.1% (92/224) in STN compared to 29.2% (100/343) in MNG (Chi-Square = 8.593, p < 0.01). However, on multiple logistic regression analysis this correlation was found insignificant (p = 0.640). Only male gender (p = <0.000005) and preoperative impression of malignancy (p = 0.000082) were significantly associated with thyroid carcinoma. CONCLUSION: The risk of thyroid carcinoma in STN and MNG was similar. Male gender was identified as a risk factor for thyroid cancer while age, number and size of nodules were not.

Thyroid cancer post radioactive iodine treatment for hyperthyroidism - case series and review of the literature.

INTRODUCTION: To assess the rate of thyroid cancer and mortality rate in a cohort of patients who received RAI¹³¹ treatment for hyperthyroidism and to report the index cases' characteristics and management MATERIAL AND METHODS: A cohort of 264 patients who received RAI¹³¹ treatment for different causes of thyrotoxicosis were followed up over a period of 18 years (1996-2014) by physical exam, radiological evaluation and serial thyroid function tests. RESULTS: During the follow up period, three cases of thyroid cancer were identified. The prevalence of thyroid cancer was 1.136% of cases who received RAI¹³¹. The relative risk was 378.79 (95% CI: 76.8 < RR < 1868.23). The P value was < 0.0000004 and the SMR is 1.99/1000. CONCLUSIONS: The prevalence of thyroid cancer was 1.136% in the cohort of patients treated with RAI¹³¹. Despite the fact that no direct cause-effect relationship between RAI and thyroid cancer could be established, these cases highlights the importance of life-long surveillance of patients who receive RAI¹³¹.

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study was carried out to investigate the molecular spectrum of WFS1 gene in Jordanian families. Molecular and clinical characterization was performed on five WS patients from two unrelated Jordanian families. Our data indicated that WS patients of the first family harbored two deletion mutations (V415del and F247fs) located in exon 8 and exon 7 respectively, with a compound heterozygous pattern of inheritance; while in the second family, we identified a novel nonsense mutation (W185X) located in exon 5 in the N-terminal cytoplasmic domain with a homozygous pattern of inheritance. This mutation can be considered as loss of function mutation since the resulting truncated protein lost both the transmembrane domain and the C-terminal domain. Additionally, the W185X mutation lies within the CaM binding domain in wolframin protein which is thought to have a role in the regulation of wolframin function in response to calcium levels.

Potassium Permanganate Poisoning: A Nonfatal Outcome.

Acute poisoning by potassium permanganate is a rare condition with high morbidity and mortality. Diagnosis of the condition relies on a history of exposure or ingestion and a high degree of clinical suspicion. Oxygen desaturation and the presence of methemoglobin are also helpful indicators. Since no specific antidote is available, treatment is mainly supportive. Few cases have been reported in the literature following potassium permanganate ingestion, whether intentional or accidental, and most of the patients in these cases had unfavorable outcomes, which was not the case in our patient. Our patient, a 73-year-old male, purchased potassium permanganate over the counter mistaking it for magnesium salt, which he frequently used as a laxative. Several hours after he ingested it, he was admitted to the endocrine department at King Hussein Medical Center, Jordan, with acute rapidly evolving shortness of breath. During hospitalization, his liver function tests deteriorated. Since he was diagnosed early and managed promptly he had a favorable outcome.