Auriculo-condylar syndrome or new syndrome?

We describe a girl with peculiar auricular dysmorphism, renal agenesis and supernumerary rib. Some different diagnostic hypotheses are discussed.     

Beckwith–Wiedemann syndrome with overlapping Perlman syndrome manifestation

Abstract

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia – gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS.     

Sheehan’s syndrome

Abstract

Sheehan’s syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The ?rst most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.     

Guillain-Barré syndrome in pregnancy

Guillain-Barré syndrome (GBS) complicating pregnancy is a rare event. Reports before the mid-1980s suggested that GBS in pregnancy carries a high maternal morbidity and mortality. However, it is uncertain whether availability of active treatment such as plasmapheresis and intravenous immunoglobulin together with advancement in intensive care has improved maternal outcome. This review examines the maternal and fetal outcomes of GBS complicating pregnancy reported in the recent English literature.     

That “borderline” syndrome

Borderline personality disorder is a chronic, pervasive condition, affecting between 2% and 3% of the population worldwide, that not only causes personal distress for patients and their loved ones but can also cause considerable consternation in the medical care setting. Patients are angry, inconsistent, accusatory, and sometimes even briefly psychotic. They infuriate health care staff and instigate conflict among them. However, the label “borderline” should not be used merely as a pejorative. Making the diagnosis can help the primary care clinician to understand how the patient experiences the world: as a threatening, inconsistent place where she will always lose what she wants and needs most. This understanding allows the clinician to support colleagues and ancillary staff, avoid confrontations, and better address the patient's real health care needs.     

Serum leptin concentrations in obese women with Down syndrome and Prader–Willi syndrome

We have evaluated serum leptin concentrations in two forms of genetic obesity. The subjects examined were eight women with Down syndrome and eight women with Prader-Willi syndrome. All patients were in the reproductive age range and were obese (body mass index ≥ 21 kg/m²). Plasma leptin values ,analyzed as a function of body mass index showed a statistically significant correlation in both Prader-Willi (r = 0.985; p < 0.001) and Down syndrome patients (r = 0.943; p < 0.001). Obese Down syndrome women exhibited significantly lower leptin values (10.8 ± 1.1) as compared to patients with Prader-Willi syndrome (31 ± 2.6; p < 0.01). The linear correlation between leptin and insulin in the two groups of patients was not statistically significant. The data suggested that obesity in Prader-Willi subjects could be caused by failure of leptin to reach its target in the brain ,as a consequence of defects in the receptor or in postreceptor processing ,whereas data on obese patients with Down syndrome could be due to a different pathogenetic origin.     

Duane retraction syndrome, a new feature in 22q11 deletion syndrome?

A female child with Duane retraction syndrome is described. A microdeletion on chromosome 22(q11) was discovered using FISH analysis. It is postulated that Duane retraction syndrome might be a new feature in 22q11 deletion syndrome.     

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition.     

Sjögren's syndrome extraglandular expressions

The Sj?gren's syndrome (SS) is an autoimmune disease which causes injury to lacrimal and salivar glands and is characterized by a potential systemic involvement. The present review will treat mainly of SS extraglandular expressions, focusing on scientific literature articles regarding SS implications in gynecology and obstetrics.     

Prenatal diagnosis of Aicardi-Goutières syndrome

OBJECTIVES: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported. METHODS: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. RESULTS: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome. CONCLUSION: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available.     

A severe case of oculo-ectodermal syndrome?

We describe a child with features of the oculo-ectodermal syndrome, who in addition to the cardinal manifestations of cutis aplasia and epibulbar dermoid had a number of other features. These include laryngomalacia, an anterior anus, microcephaly and significant developmental delay. The parents are of New Zealand Maori ancestry and are related as half first cousins, raising the possibility that this syndrome may be recessively inherited.     

Ovarian hyperstimulation syndrome: an endocrinopathy?

Ovarian hyperstimulation syndrome remains a significant but incompletely understood complication of ovarian stimulation. Evidence has accumulated regarding a role for various cytokines, in particular vascular endothelial growth factor, in its occurrence. However, the pathogenesis of ovarian hyperstimulation syndrome is likely to be complex and may involve a network of interacting cytokines and endocrine factors. Recent studies suggest links between specific cytokines and specific functional abnormalities in severe ovarian hyperstimulation syndrome. Two clinical forms of ovarian hyperstimulation syndrome may be distinguished, based on time of onset, with implications for the prediction and prevention of ovarian hyperstimulation syndrome in clinical practice.     

Management of twin–twin transfusion syndrome

This paper presents a review of the diagnosis and treatment of twin-to-twin transfusion syndrome (TTTS). The incidence of fetal or neonatal mortality and preterm delivery in monochorionic twin pregnancies is substantially much higher than in dichorionic twin pregnancies due to TTTS. About 15% of all monochorionic twin pregnancies are affected by severe TTTS which is characterized by hypervolemia and polyhydramnios in one fetus and hypovolemia and anhydramnios in the other one. It is caused by vascular anastomoses within the shared placental system. With close surveillance without intervention, the majority of these pregnancies result in fetal death of both fetuses. Effective treatment is provided by intrauterine laser coagulation of the communicating vessels, allowing survival of at least one fetus in about 75% of the cases.