Alstrom syndrome (OMIM 203800): a case report and literature review

Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.     

Concurrent nephrotic syndrome and acute renal failure caused by chronic lymphocytic leukemia (CLL): a case report and literature review

Background

The aim of this study was to compare histomorphometric changes and the results of immunohistochemical tests for VCAM, ICAM-1, CD4 and CD8 in normal placentas from HIV-seropositive pregnant women.

Methods

Samples of normal placentas were divided into 2 groups: healthy HIV-seronegative pregnant women (control group = C = 60) and HIV-seropositive women (experimental group = E = 57). Conventional histological sections were submitted to morphometric analysis and evaluated in terms of the immunohistochemical expression of ICAM-1, VCAM, CD4 and CD8.

Results

The villi in group E were smaller than those in group C. The median for the CD8+ T cell count was higher in group E than in group C (p = 0.03). Immunohistochemical expression of ICAM-1 was observed in 57% of the cases in group E, compared with 21% of those in group C (p = 0.001). There was no difference in VCAM expression or CD4+ cell counts between groups and no correlation between the data for antiretroviral therapy and morphometric or immunohistochemical data.

Conclusions

The morphometric data showed that placentas of HIV-seropositive pregnant women tend to have smaller villi than those of seronegative women. In addition, immunohistochemical testing for infectious agents helped to identify cases that were positive for microorganisms (6/112) that routine pathological examination had failed to detect. The anti-p24 antibody had a limited ability to detect HIV viral protein in this study (2/57). Correlation of immunohistochemical expression of CD8+ T cells and ICAM-1 with the presence of HIV in the placenta revealed that those expressions can act as biomarkers of inflammatory changes. There was no correlation between the data for antiretroviral therapy and morphometric or immunohistochemical data.     

Takotsubo syndrome with pulmonary embolism: a case report and literature review

Background

Takotsubo syndrome (TTS) is an acute cardiac condition with reversible heart failure which is often triggered by psychological and physical stressful events. Although pulmonary embolism (PE) was reported as a trigger for TTS, the concurrence of TTS and PE has been rarely reported, let alone that triggered by PE. Here we describe a case of a postmenopausal female presenting with symptoms similar to myocardial ischemia, which may be caused by PE, and review the available literature that may help clinicians with their practice to similar situations since no published guidelines are available.

Case presentation

An 86-year-old female was referred to the emergency department for unrelieved chest tightness, shortness of breath and back pain. Cardiac biomarkers were mildly elevated and electrocardiogram displayed pathologic Q-waves, ST-segment elevation and inverted T-waves. Unexpectedly, coronary angiography was in absence of obstructed coronary atherosclerosis or acute plaque rupture. Chest computed tomography illustrated multiple pulmonary emboli in bilateral pulmonary arteries. She had suffered from long-term right lower extremity pain and experienced a long railway journey with less activity. Both echocardiogram and cardiac magnetic resonance demonstrated regional hypokinesia of left ventricle. She received anticoagulant and diuretic therapies, three-month follow up after discharge revealed uneventful recovery without any pulmonary emboli or regional motion abnormalities, thus she was retrospectively diagnosed with TTS caused by PE.

Conclusion

TTS and PE are scarcely concurrent and PE can exert as a potential trigger for TTS. TTS is easily misdiagnosed, actively seeking possible risk factors of TTS is in favor of early diagnosis and timely intervention. TTS with PE is reversible, timely and effective treatments ensure the best possible outcome.

     

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.     

Johnson-McMillin syndrome: report of a new case with novel features

BACKGROUND: Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified. CASE: Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid. CONCLUSIONS: In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition.     

Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion

Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation.     

Woodhouse-Sakati syndrome: case report and symptoms review

We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.     

ICF syndrome: a new case and review of the literature

Patients with ICF syndrome can be recognized by the presence of a variable immunodeficiency, instability of the pericentromeric heterochromatin of, in particular, chromosomes 1, 9, and 16 in cultured peripheral lymphocytes, and a number of facial anomalies. Recently, aberrations at the molecular level have been described, consisting of alterations in the methylation pattern of classical satellite DNA, in a number of patients. ICF syndrome is considered to be inherited in an autosomal recessive manner and may be rare, as only 14 patients have been described thus far. We present a new case, a boy with agammaglobulinemia, who was extensively studied by means of classical cytogenetics and fluorescent in situ hybridization. All patients previously reported in the literature are reviewed.     

Waardenburg syndrome: A rare genetic disorder, a report of two cases

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.     

Unusual acrofacial dysostosis with severe limb defects: a new syndrome

The acrofacial dysostoses are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and retrognathia combined with variable limb malformations. We report the patient, a 5-day-old-boy with craniofacial dysmorphic features and upper and lower limb defects respectively.     

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report

Background  

Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity.     

Uterine prolapse with an interesting vascular anomaly in a cheetah: a case report

A 5-year-old cheetah suffered a complete prolapse of the left uterine horn after the birth of her second litter. Two attempts to reduce the prolapse transvaginally failed. The animal was hospitalized 13 days after the prolapse first occurred, and an ovariohysterectomy was performed to resolve the prolapse. The prolapsed uterine horn had been mutilated: its tip, together with the ipsilateral ovary was absent. Laparotomy revealed no sign of recent or past hemorrhage or adhesions, or any signs of the left ovarian artery or left ovarian vein in the remnants of the left mesovarium. A large vein crossed the uterine body from the left uterine horn to join the right uterine vein, presumably serving as the only route of venous drainage for the prolapsed uterine horn. A possible cause for the prolapse is excessive mobility of the uterus due to prior rupture of its mesial support. The animal died 24 days after surgery due to chronic renal failure, as a result of severe renal amyloidosis.     

Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome

Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.     

A migraine variant with abdominal colic and Alice in wonderland syndrome: a case report and review

Background  

Abdominal migraine is a commonly described migraine variant in children and young adults, but associations with Alice in Wonderland syndrome and lilliputian hallucinations are exceptional.     

Congenital heart disease and external ear anomalies with hearing loss: a report of two new cases and a review of the literature

Two cases of infants presenting primarily with congenital heart disease and external ear anomalies with hearing loss are reported. There is a clear, clinically important, association between these two birth defects; this association discussed along with a review of other syndromes with such features.     

Hypotriploidy 68,XX: a new case report and review of earlier cases

We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.