The causal association of childhood obesity and hypogonadotrophic hypogonadism needs to be studied to unravel the cause and effect relationship between the two conditions. The relationship of hypogonadism to the Metabolic Syndrome (MetS) remains valid even when using different definitions of MetS, and following the patients prospectively for over 10 ...

Aim: To determine the frequency of cardiovascular risk factors and the prevalence of metabolic syndrome (MS) in obese children and adolescents. Methods: This cross-sectional study concerned 186 obese children and adolescents (137 girls and 49 boys), between the ages of 6 and 18 years, recruited in the research unit on ...

Abstract Stress-induced cardiomyopathy (SIC) is a novel syndrome with a substantial morbidity and mortality rate. It has become an important differential diagnosis in patients with acute chest pain. The characteristic hallmark of SIC is a development of extensive but reversible left ventricular dysfunction which may cause fulminant heart failure, cardiogenic ...

Anemia and other hematological abnormalities are common in patients with Sheehan's syndrome. The response of these abnormalities to replacement of thyroxine and glucocorticoids is not clear. The aim of the present study was to document the profile of hematological abnormalities and response to treatment in patients with Sheehan's syndrome. Forty ...

Reports on the clinical entity of hemorrhagic fever with renal syndrome (HFRS) have focused on acute renal failure. Data on the extrarenal manifestations are limited primarily to case reports. In this study, protean extrarenal manifestations involving the major organs occurred in one-third of patients with HFRS during various stages (i.e., ...

: To examine the association between interval from previous ultrasonogram to diagnosis of twin-twin transfusion syndrome and stage at diagnosis. : We reviewed all monochorionic twins undergoing evaluation for twin-twin transfusion syndrome in our ultrasound department from 2001 to 2008. Cases of twin-twin transfusion syndrome were categorized as early (Quintero ...

Sensory neuronopathies (SN) are peripheral nervous system disorders associated with degeneration of dorsal root ganglion neurons. Magnetic resonance imaging (MRI) studies have shown abnormalities limited to T2-weighted high signal intensity in the posterior columns. A 65-year-old woman with Sjögren syndrome had slowly progressive unsteadiness of gait and limb paresthesias. A ...

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies. Data from the literature suggest that cutaneous findings of the syndrome include genetically programmed ageing changes and DNA repair ...

LEOPARD syndrome (LS) is a rare hereditary disorder in Asian countries. This syndrome consists of multiple systemic abnormalities. In particular, characteristic cardiovascular effects in LS may include variable clinical manifestations from benign to life-threatening courses. The cardiac effects of this syndrome consist of left ventricular hypertrophy (LVH), pulmonary stenosis (PS), ...

The kidneys play a pivotal role in causing some forms of hypertension and probably a permissive role in most, if not all, forms of hypertension. This concept of the critical role of the kidneys has been postulated for many years but has been solidified by the molecular unraveling of several ...

The majority of sudden, nontraumatic deaths in young, otherwise healthy individuals result from an unknown underlying cardiac abnormality. The low sensitivity of the traditional history and physical exam in detecting these anomalies has led to a debate regarding the use of routine screening electrocardiograms (ECGs) in young adults. The present ...

The 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 deletion and Cat-eye syndromes (CES), but more recently other copy number abnormalities have been recognised, especially with increased use of microarrays in the investigation ...

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been ...

We report the case of a 5-year-old child with dyskeratosis congenita who presented cyanosis and dyspnea at exertion. He had severe hypoxemia with elevated alveolar-arterial oxygen gradient in the setting of liver disease. Technetium-99m-labeled macroaggregated albumin scan showed abnormally high uptake in the brain, confirming hepatopulmonary syndrome.

Central diabetes insipidus (CDI) could occurs in patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), because of infiltration of leukemic cells into the neurohypophysis or some other reason and it is closely associated with abnormalities of chromosome 7. We report a case of MDS with abnormalities of chromosome ...

Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

After rapid correction of severe hyponatremia, a 36-year-old man developed osmotic demyelination syndrome (ODS), manifested neurologically by impaired cognition, extremity weakness, bilateral third cranial nerve palsies, and gaze-evoked upbeat and rotary nystagmus. Brain MRI showed restricted diffusion in the rostral midbrain and temporal and parietal lobes but not in the ...

Autosomal recessive, autosomal dominant and the sporadic forms of hyperimmunoglobulin E syndrome (HIES) are multi-system disorders. Although HIES patients may present with cold abscesses, the vascular features of HIES are not well recognized. The objective of this review is to characterize the nature and spectrum of vascular abnormalities in HIES ...

Angelman syndrome is a complex genetic condition involving abnormalities of chromosome 15 in the majority of cases. These defects involve a gene encoding an ubiquitin protein ligase and may be associated with abnormal gamma-aminobutyric acid (GABA)(A) receptor subunits. Angelman syndrome may have profound implications for anaesthesia: potential exists for airway ...

It is increasingly evident that a multitude of etiologies can give rise to signal abnormality in the dorsal and lateral columns of the spinal cord, apart from pernicious anemia. We report a case of dorsal and lateral columns signal abnormality related to hypocupremia resulting in progressive sensory ataxia and weakness ...

Poster presented at the University of Pretoria Health Sciences Faculty Day, Pretoria, South Africa, August 2008

PURPOSE: To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma. CASE REPORT: We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features ...

OBJECTIVES: Turner syndrome (TS) is the most frequent sex chromosome abnormality, and sensorineural hearing loss is common. We aimed to determine whether there are consistent morphologic cochlear abnormalities during gestational development that could be associated with TS. DESIGN: The histology of nine fetal temporal bones of TS autopsied after spontaneous ...

The oculocerebrorenal syndrome of Lowe (Lowe syndrome) is an X-linked disorder of phosphatidylinositol metabolism characterized by congenital cataracts, renal proximal tubulopathy and neurological deficits. The disorder is due to the deficiency of the phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5-phosphatase, ocrl1. PIP(2) is critical for numerous cellular processes, including cell signalling, actin reorganization ...

POEMS syndrome is a plasma cell proliferative disorder whose pathogenesis is poorly understood. We provide the first report of cytoplasmic immunoglobulin/FISH testing (cIg-FISH) in POEMS syndrome using established myeloma markers. We reviewed all 37 POEMS cases seen at our institution in which cIg-FISH testing had been obtained. Monosomy 13 was ...

Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Rarely, vascular anomalies cause neurologic signs. We report on a 30-month-old girl with ...

Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome (multiple lentigines syndrome) is most often characterized by multiple lentigines and cardiac conduction defects. Café noir spot is a term proposed, by analogy to café au lait spots, for the larger and darkly pigmented patches ...

Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in ...

Klinefelter syndrome is a chromosomal disorder characterized by one or more supernumerary X chromosomes, in addition to the normal 46,XY male karyotype. Whereas classic Klinefelter syndrome (47,XXY) occurs in 1:400 births, the most severe Klinefelter variant (49,XXXXY) occurs in only 1:85,000 births. The degree of cognitive impairment, specific skeletal changes, ...

We describe the administration of anaesthesia to a patient with Angelman syndrome, which is characterised by an abnormality of chromosome 15, where a subunit of the GABA receptor is coded. This has far-reaching anaesthetic implications as many drugs used in anaesthesia are thought to act via GABA receptors. Our patient ...

Wandering spleen is a rare clinical entity characterized by splenic hypermobility resulting from laxity or maldevelopment of supporting splenic ligaments. Its major complication is splenic torsion, which is a potentially fatal surgical emergency. We present a rare case of wandering spleen with torsion and splenic infarction in a patient with ...

Alagille syndrome is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, facial dysmorphy, vertebrae defects, and ocular abnormalities, and frequent renal abnormalities. It does not usually predispose to malignancies. Nephroblastoma has been observed in many developmental disorders, but never in Alagille syndrome. We report two original cases of ...

This report describes an example of a patient with chest pain and classic electrocardiographic changes consistent with ischemia in the proximal left anterior descending coronary artery (LAD) territory. This electrocardiogram (ECG) abnormality is known as Wellens' syndrome. However, the same abnormality is also described as inverted U-waves. The significance of ...

The temporal bones of a 23-week-old female who had multiple congenital anomalies and bilateral hearing loss with trisomy 13 syndrome were evaluated under light microscopy. In the left cochlea, spiral ganglion cells and cochlear nerve fibers are absent. In the right ear, an abnormal branch of the singular nerve passes ...

In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that ...

A four (4) week old female neonate presented with a rare abnormality to be confirmed an accessory nose in the E. N. T. Clinic of University of Benin Teaching Hospital (UBTH), Benin City following a complete physical examination. A CT scan of the cranium, helped to reveal communication between the ...

A case of Parry-Romberg syndrome that was studied by fluorescein angiography and optical coherence tomography (OCT) is described. OCT revealed the existence of retinal nerve fiber layer edema and abnormalities of the vitreoretinal interface. The presence of diffused retinal edema throughout the papillomacular area and the formation of thick retinal ...

Popliteal artery entrapment syndrome (PAES) is a disorder of the young age group characterized by ischemia of the lower extremities due to an abnormal association between the popliteal artery and adjacent musculotendinous structures. Several underlying anatomical abnormalities causing this syndrome are described and classified. In this study, we present an ...

The hepatopulmonary syndrome is characterized as the triad of liver disease, pulmonary gas exchange abnormalities leading to arterial deoxygenation and evidence of intrapulmonary vascular dilatations. This review summarizes the pathological mechanisms leading to pulmonary vascular changes in hepatopulmonary syndrome. The role of the three currently used diagnostic imaging modalities of ...

Phacomatosis pigmentokeratotica (PP) is a mosaic disorder that represents a distinct epidermal naevus syndrome. Its defining features are an epidermal naevus that is usually of the sebaceous type and a speckled lentiginous naevus arranged in a chequerboard pattern. In addition, there are neurological, ophthalmological and skeletal abnormalities, including limb hemiatrophy ...

Epidermal nevus syndrome is a group of congenital neurocutaneous disorders characterized by epidermal nevi in association with cerebral, ocular, skeletal, and sometimes cardiac and renal abnormalities. These nevi have been classified according to their predominant component. We described a child presenting with inflammatory linear verrucous epidermal nevus on the head, ...

OBJECTIVES: To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of the structural defects affecting their baby. METHODS: Fetal Medicine Unit database searches to identify ...

The features of craniosynostosis, facial dysmorphism, and distal extremity syndactyly in Apert syndrome are well known. However, there have been limited descriptions of the associated glenohumeral joint findings. We report the radiographic and MRI abnormalities of the glenohumeral joints in a 10-month-old girl with Apert syndrome. The MRI findings in ...

We report on a female infant with congenital iron storage disease, facial dysmorphism, intractable diarrhea, and hair abnormalities. The intractable diarrhea failed to resolve despite total parenteral nutrition and complete bowel rest for more than 3 weeks. The patient also had elevated liver enzymes and failure to thrive. Histopathologic examination ...

Wolfram syndrome is a rare autosomal recessive disorder featuring diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; DIDMOAD is a commonly accepted anonym for this disorder. We describe a 35-year-old man with Wolfram syndrome, who had marked atrophy of the brain stem, middle cerebellar peduncle, and cerebellum. Despite these MR ...

The nose is a prominent feature of the human face. Congenital malformations of the nose, whether functional or anatomic, affect the physiologic and psychologic wellness of children who have these anomalies. Congenital nasal abnormalities may be overt or subtle and can occasionally cause life-threatening emergencies at birth. A discussion of ...

The authors report on a patient with mild cranio-facial abnormalities observed at birth and growth hormone deficiency, which later developed a typical Kearns-Sayre syndrome. Facial abnormalities are similar to those reported in the fetal alcohol syndrome (a typical neural crest syndrome). In the authors' opinion, they could be an abnormality ...

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, hypogonadism, and renal abnormalities. To date, eleven genes have been cloned but there is still little knowledge about genotype/phenotype correlations. We describe three additional cases with ...

PURPOSE: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 male siblings with Maroteaux-Lamy syndrome. METHODS: Two male siblings 27 and 22 years of age who had been diagnosed with Maroteaux-Lamy syndrome underwent ophthalmologic assessment. In vivo confocal microscopy of their corneas was performed ...

Fragile X syndrome is an inherited disorder caused by a defective gene on the X chromosome. It is associated with developmental or behavioral symptoms and various degrees of mental retardation. Morphologic abnormalities and altered perfusion of various brain areas can underlie these functional disturbances. The aim of this study was ...