Unusual presentation of Kelley-Seegmiller syndrome

Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg (-1) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A > G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that > 75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings.     

Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hypospadias

Biliary atresia is associated with polysplenia in 2-10% of cases and is defined as Biliary Atresia Splenic Malformation syndrome (BASM). The main features of BASM syndrome include extrahepatic biliary atresia and polysplenia besides the characteristic findings of laterality anomalies, cardiac anomalies, intraabdominal vascular anomalies, pancreatic anomalies and malrotation. Here we present a 6-month-old male patient with BASM having atrial septal defect, umblical hernia, inguinal hernia, and hypospadias. Clinical history revealed that his father also had hypospadias which showed a rare form of autosomal dominant inheritance. The karyotype was normal and the molecular analysis of CFC1 gene revealed no mutation. We emphasize the importance of a detailed physical examination in cases with BASM.     

Unusual presentation of hypophysitis preceding an empty sella in a 75-year-old woman

A 75-year-old woman complained about progressing fatigue. She appeared somnolent, but fully oriented and in no acute distress. Her face was pale and puffy. She did not show any signs of focal neurological disease, and the remainder of the physical examination was unrevealing. Routine laboratory tests were unremarkable except for hyponatremia and mildly decreased levels of free T3 and free T4, with TSH in the normal range. Pituitary function tests demonstrated secondary adrenal insufficiency and hypothyroidism. Magnetic resonance imaging (MRI) unmasked hypophysitis with the characteristic findings of homogeneous gadolinium uptake of the pituitary and a prominent pituitary stalk ('dural tail sign', arrows in Fig. 1 A and B, sagittal and coronal views). Substitution of hydrocortisone and levothyroxine resulted in rapid and sustained improvement of all symptoms and normalisation of laboratory findings. MRI abnormalities normalized within the following six months. At follow-up three years later, MRI signs had further regressed and demonstrated an empty sella (Fig. 2 A and B).     

Unusual presentation of plasmablastic lymphoma involving ovarian mature cystic teratoma: a case report

Background

Plasmablastic lymphoma (PBL) is relatively new clinical entity described as a distinct subtype of diffuse large B-cell lymphoma (DLBCL). It is characterized by its aggressive nature and proliferation of large neoplastic cells resembling immunoblasts including cells with more obvious plasmacytic differentiation. In this case report, we describe an unexpected finding of PBL associated with a mature cystic teratoma of the ovary in a young immune competent woman.

Case presentation

A 19-year old woman was admitted to the hospital with generalized lymphadenopathy, a pelvic tumor mass measuring 35?×?30 cm and a 4 cm lump in her right breast. She underwent a right salpingo-oophorectomy, lymphadenectomy, splenectomy, omentectomy, and a right breast lumpectomy. On macroscopic examination the right ovary was replaced by a thick-walled multilocular cystic tumor. Upon incision, the cysts were filled with thick, greasy sebaceous material and hair and there were several solid nodules within the cyst walls. Histological examination revealed a mature cystic teratoma and malignant non-Hodgkin lymphoma (NHL) within the solid nodules. Tumor tissue from the right breast, spleen and lymph nodes, all had the same histological, NHL morphology. After extensive immunostaining, a diagnosis of PBL was made. Following surgery, the patient was treated with different chemotherapy regimens, without any significant regression of the disease, and died of multiple organ failure.

Conclusions

Primary NHL of the ovary is relatively rare occurrence while secondary involvement by lymphoma is much more common. PBL is a rare lymphoma, primarily reported in the jaw and oral mucosa, but also documented in extra-oral sites. To the best of our knowledge, this is the first case described in a mature ovarian cystic teratoma. Although the patient was HIV-negative and immune competent, she had progressive disease and died despite aggressive chemotherapy 11 months after the initial diagnosis.

     

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.9176T→C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T→C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T→C mutation.     

Unusual presentation of supraventricular tachycardia degenerating into ventricular fibrillation during pregnancy: Aortocaval compression the probable culprit

Cardiac arrhythmias are common and often benign in pregnancy. However, haemodynamic instability can occur when tachyarrhythmias are accompanied by aortocaval compression, which can lead to loss of cardiac output. We present an atypical case of a pregnant woman with a supraventricular tachyarrhythmia, which degenerated into ventricular fibrillation arrest while supine due to aortocaval compression. Inducible atypical atrioventricular nodal re-entry tachycardia was subsequently detected on electrophysiological study and presumed to be the most likely initial supraventricular tachyarrhythmia.     

Plasmacytoma of the breast. Unusual initial presentation of myeloma: report of two cases and review of the literature

Two patients who presented initially with breast masses proven to be plasmacytomas, are described. In both cases the breast masses led to the diagnosis of multiple myeloma, which was retrospectively already present at the time of the breast biopsy. One patient with IgG lambda-type myeloma developed plasma cell leukemia and amyloidosis and failed to respond to radiochemotherapy. The second patient was in complete remission, four years after therapy, but has subsequently relapsed and died. All cases of breast plasmacytoma, described in the medical literatures are reviewed, and guidelines for future therapy are suggested.