Hypereosinophilic Syndrome (HES) is diagnosed when there is peripheral hypereosinophilia with eosinophil count of more than >1500/µL. The duration of the illness usually lasts more than 6 months, with evidence of target organ damage, affecting mainly the skin, heart, and neurological system, without apparent aetiology. This case report details a case of hypereosinophilic syndrome in an 80-year-old man with multiple co-morbidities, who presented with unexplained peripheral eosinophilia, intermittent skin rashes, cardiac, respiratory, and abdominal symptoms. It is important to consider the diagnosis of hypereosinophilic syndrome when there is an unexplained peripheral eosinophilia, and thus intervene rapidly to prevent life-threatening complications.
Back Ground: Both Sirenomelia & Gastroschisis are very rare congenital anomalies & it is extremely rare to find each of the two anomalies in both twins of one pregnancy, here we reported the two anomalies in one twin pregnancy.
Case Report: We reported twin pregnancy in G3p0A2 19 years old healthy woman who had irregular antenatal visits, ultrasound exam done 4 times during pregnancy, all shown monochorionic, diamniotic twins with polyhydromnia & Gastroschisis, abnormal spine and sacrococcygeal teratoma in the 1st twin and oligohydromnia in the 2nd twin in which the anomaly was not clear & later on the baby born with Sirenomelia.
In all the references we reviewed we cauldn't find the two anomalies in one twin pregnancy and this case was considered to be the 1st reported case globally.
Metabolic syndrome (MetS) associated with hypothyroidism, was reported in literature. Like-wise association between hypothyroidism and Vit. D deficiency was reported. Hypothyroidism, Vit. D deficiency in DM2 patients was also reported, in the literature. But the occurrence of MetS, hypothyroidism and Vit. D deficiency, together occurring in a case was unreported. The author presented such triple association in a male patient aged 54 years. While Met S itself was a risk factor for CVD (cardiovascular vascular disease) and so were independently, the hypothyroidism and hypovitaminosis D, the triple association would have cumulative risk for CVD. So, it would be profitable to screen all MetS cases with hypothyroidism, for Vit. D deficiency also, in view of the possible cumulative risk. Literature was reviewed as to the relationship of MetS to hypothyroidism and Vit D deficiency, as well as the changing diagnostic criteria of MetS and it’s pathogenesis.
Rubinstein – Taybi syndrome (RTS) otherwise called as Broad Thumb-Hallux syndrome is considered to be a genetic disorder characterized by facial dysmorphism mental deficiency and growth retardation. Presented here is a case report of the patient with RTS with comprehensive oro-dental treatment. This case report describes the clinical features of a 25-year-old female with RTS, who had multiple dental problems such as multiple missing teeth, dental caries, periodontal disease and severe malocclusion. Physical findings were similar to those previously described in other reports. In this case report, the extraoral and intraoral features of this patient are discussed.
Objective: Detection of minor (p190) BCR-ABL fusion protein in a CML patients.
Case Report: A 26-year-old female presented with complaints of pain abdomen and episodes of vomiting. On examination her vitals were stable and there was moderate splenomegaly. The peripheral blood and bone marrow cytological features were consistent with myeloproliferative neoplasm. Fluorescent in situ hybridization (FISH) for BCR ABL was positive, with 87% of cells showing fusion transcript. However, Real Time Polymerase chain reaction (RT-PCR) for p210 BCR-ABL was found to be negative. In view of high morphologic index of suspicion for CML, further molecular analysis was carried out for BCR/ABL fusion transcript variants along with JAK2 V617F mutations.
Conclusion: The patient was found to be positive for BCR/ABL p190 e1a2 fusion transcript, while BCR/ABL p210 fusion transcript was negative.
