Background Research addressing the experiences of families of adults with Down syndrome and Alzheimer's disease in seeking diagnosis and gaining support is limited. The aim of this study was to gain a greater understanding of these processes by exploring the experiences of families and carers in supporting people with Down ...

A 16-year-old girl was referred to our center by her general physician because of primary amenorrhea. Her family history revealed an older sister with Swyer syndrome and gonadectomy at another institution. After thorough evaluation she received the same diagnosis, but unlike her sister, she refused gonadectomy. Four years later she ...

Genes hold opportunities for us to look backward and forward in family health and disease incidence. Our beliefs about genes' roles in health form around frameworks relating to personal control, and the influence of social networks and/or religious faith on genetic expression in health. These genetic relativistic frameworks were found ...

Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the ...

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. ...

A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. In a Dutch family with ...

Hemophagocytic lymphohistiocytosis represents a rare but biologically and clinically important group of disorders. The cardinal manifestations are prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglycerides and low fibrinogen. Here we describe a case of familial hemophagocytic lymphohistiocytosis with distinct facial ...

A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her ...

Deafness and onychodystrophy is a presumed autosomal dominant condition previously reported in five families. We report on a three-generation family with three affected members with absent finger and toenails, finger-like thumbs, and severe sensorineural deafness. In the hands, the first and fifth digits had absent nails and bulbous swelling of ...

Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. We report on an ...

  Milia are common, small, keratin-containing cysts frequently seen in all age groups. They may arise spontaneously or develop after a variety of stimuli. They can be found alone or as part of syndromes. We present a female neonate born not only with profuse facial milia, but also with acral ...

This study asks brothers and sisters about their feelings and perceptions toward their sibling with Down syndrome (DS). We analyzed valid and reliable surveys from 822 brothers and sisters whose families were on the mailing lists of six non-profit DS organizations around the country. More than 96% of brothers/sisters that ...

The immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic methylation defect. It manifests with phenotypic and clinical variability, with the most consistent features being developmental delay, facial anomalies, cytogenetic defects and immunodeficiency with a ...

In addition to the recent expert review on familial MDS by Elaine Liew and Carolyn Owen that is partially focused on familial platelet disorder with propensity to myeloid malignancies (FPDMM) due to germline RUNX1 mutations or syndromic microdeletions in 21q22, we report here on a novel case of non-syndromic thrombocytopenia ...

Transverse testicular ectopia (TTE) is rare. Although several familial cases of TTE have been reported, most of them were associated with persistent Mullerian duct syndrome (PMDS), which may be inherited as an autosomal-recessive or X-linked recessive trait. We experienced two brothers with TTE unrelated to PMDS. A genetic etiology may ...

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other ...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder, particularly frequent in post-menopausal women. It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH. Singlegland adenoma is the most common cause (75- 85%). PHPT is usually a sporadic disease but in approximately <5% of cases, a familial hyperparathyroid syndrome is ...

Lynch syndrome (HNPCC) is an autosomal dominant hereditary cancer syndrome, and members of affected families are at-risk for developing colorectal and other associated tumors. Such individuals should disseminate familial genetic information, so they can seek specific medical assessment or genetic testing to reduce mortality and morbidity rates by early detection. ...

Background: To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Materials and Methods: Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. Results: This analysis revealed the presence of a ...

Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general. The best-characterized familial myelodysplastic syndrome is that of familial platelet disorder with propensity to myeloid malignancy (FPD/AML), caused by heterozygous germline RUNX1 mutations. Recently, there has been an ...

BACKGROUND: Spinal cord infarction from anterior spinal cord syndrome (ASAS) in children is a rare pathology and comprises the following clinical symptoms: sudden onset of pain and flaccid para- or tetraparesis, bladder dysfunction, and dissociated sensory loss with impairment of pain and temperature perception. Deep sensibility is not affected. PATIENT: ...

Scimitar syndrome is characterized by anomalous pulmonary venous drainage of a part or the whole of the right lung into the inferior vena cava (IVC). It is extremely uncommon in scimitar syndrome for the pulmonary veins to drain anomalously to a site other than the IVC. The following case report ...

BACKGROUND: Branch retinal vein occlusion (BRVO) is commonly encountered in older patients with vascular disease. This report presents a case of BRVO in an atypically young patient that precipitated additional testing and a subsequent diagnosis of primary antiphospholipid syndrome. This illustrates a need for a thrombophilic evaluation in atypical patients. ...

Congenital central hypoventilation syndrome (CCHS) is an increasingly recognized diagnosis causing central hypoventilation and may be definitively diagnosed by genetic testing. Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCHS could be secondary to CSVT. We report a case of CCHS with ...

Posterior nutcracker syndrome (PNS) is a rare condition due to left renal vein (LRV) hypertension, caused by compression of the LRV between the vertebral column and the abdominal aorta. Diagnosis of PNS is challenging, as symptoms are variable and not specific. Therapeutic options are debated, and either conservative, open, or ...

OBJECTIVE: Thoracic outlet syndrom is a condition caused by compression of the subclavian artery, subclavian vein and/or the brachial plexus. Scalene muscle section and first rib removal is the most effective treatment. The objective of this article is to demonsrate first rib resection using videothoracoscopy. MATERIAL AND METHOD: We describe ...

Left renal vein (LRV) compression, commonly referred to as the nutcracker syndrome or renal vein entrapment syndrome, is a rare and often overlooked condition. Anatomically, the LRV traverses the space between the superior mesenteric artery and the aorta in close proximity to the origin of the artery. In affected individuals, ...

Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by thrombotic events and the presence of circulating antiphospholipid antibodies. Large vessel involvement in the form of thrombosis/stenosis and thrombotic microangiopathy is a commonly described renal finding. However, non-thrombotic glomerulopathies are increasingly being recognized in patients with antiphospholipid syndrome. We report a ...

We report a 13-year-old male patient with heterotaxy and polysplenia syndrome associated with hemiazygous continuation of the left-sided vena cava inferior, dilated azygous vein, and large venous ectasia. This is the first report of heterotaxy and polysplenia syndrome associated with this particular venous arrangement.

Massive venous thrombosis, which can occur acutely after inferior vena cava filter placement, has 2 forms: phlegmasia cerulea dolens and phlegmasia alba dolens. In phlegmasia cerulea dolens, complete occlusion of venous outflow occurs. In the milder phlegmasia alba dolens version, collateral venous flow out of the limb remains despite the ...

Retiform purpura consists of branching purpuric lesions caused by a complete blockage of blood flow in the dermal and subcutaneous vasculature. The differential diagnosis for retiform purpura is broad, including vasculitides of the small and medium vessels as well as microvascular occlusion due to thrombotic, infectious, and embolic phenomena. Determining ...

INTRODUCTION: Lemierre syndrome, also known as postanginal sepsis, is caused by Fusobacterium necrophorum. This rare disease is usually characterized by thrombophlebitis of the jugular vein and septic embolism after a history of sore throat. OBJECTIVE: Here, we discuss a case of Lemierre syndrome in a 22-year-old man with thrombophlebitis of ...

A 7-week-old girl showed vomiting after feeding, facial pallor, loss of muscle tone and respiratory depression. An emergency doctor performed successful resuscitation and after arrival in hospital, cranial ultrasound showed left-sided subdural hemorrhage, cerebral edema with a shift of the midline, and a decrease in cerebral perfusion. Ophthalmologic examination showed ...

Kabuki syndrome (KS) comprises multiple congenital abnormalities and is characterized by a peculiar facial appearance, dermatoglyphic anomalies, mental retardation, skeletal abnormalities and postnatal growth retardation. We describe the case of a 23-month-old boy with the typical features of KS who had several malformations in the veins of the brain, which ...

Congenital venolobular or scimitar syndrome is a rare congenital cardiopulmonary anomaly consisting in a partial anomalous pulmonary venous drainage, lung hypoplasia, and anomalous systemic arterial supply to the lung. It can associate with other congenital disorders which will confer the clinical presentation and prognosis of these patients. In most of ...

Unilateral calf swelling and pain is not a common complaint in the pediatric emergency department. We present a case of a 17-year-old adolescent boy with no past medical history who presented with left leg swelling and pain while taking prednisone and isotretinoin. He was found to have an extensive occlusive ...

Hepatopathy-thrombocytopenia syndrome (HTS) is a severe complication very similar to vein occlusive disease (VOD), also known as hepatic sinusoidal obstructive syndrome (SOS), characterized by fever, hepatopathy (hepatomegaly with abnormal liver function tests), ascites, weight gain, jaundice, and thrombocytopenia (platelet count less than 25 × 10(3)/μL). It has been generally observed ...

The Medici family ruled Florence for most of the period from the 1430s to the 1730s, with the senior (primogenito) branch predominating until the line ended in the 1530s and the cadet (secondogenito) branch predominating thereafter. Recent studies have identified a familial syndrome consisting of cutaneous symptoms, peripheral arthropathy and ...

A case report where the diagnosis of pacemaker syndrome was made using simply suprahepatic vein, pulsed Doppler echocardiography. To the knowledge of the authors, this method is currently unpublished.

Nutcracker syndrome is an entity resulting from left renal vein compression by the superior mesenteric artery and the aorta, leading to symptoms of left flank pain and hematuria. Conventional treatment has been surgical, commonly through transposition of the left renal vein to a more caudal location on the inferior vena ...

STATING BACKGROUND: Pre-duodenal portal vein (PPV) is a rare congenital anomaly, usually asymptomatic and thus detected only incidentally in adults. It is often associated with other anomalies which can be included into polysplenic syndrome. METHODS: In this case, a 56-year-old-female was admitted for a degenerative ampullome. The preoperative work-up shows ...

It is fascinating to note the astute observations of clinicians almost a century ago. Familial hematuria was described in 1902 by Dr. Leonard Guthrie. Dr. Cecil Alport refined the disease description in 1927. (Both papers are still available online.) Applications for life insurance were recently received on two women who ...

Objectives: To report the success of treatment with low- molecular-weight heparins (LMWHs) in a case of nephrotic syndrome complicated by mesenteric vein thrombosis (MVT) and portal vein thrombosis (PVT). Clinical Presentation and Intervention: A 53-year-old man with nephrotic syndrome developed persistent mild abdominal pain for 3 days. Hepatic-portal venous system ...

Nutcracker syndrome is described as the symptomatic compression of left renal vein between the aorta and the superior mesenteric artery, resulting in outflow congestion of the left kidney. We present the case of a 51-year-old male with a left-sided inferior vena cava, resulting in compression of the right renal vein ...

Aplasia Cutis Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams-Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. ...

During the past decade idiopathic venous thromboembolism has become a separate entity, a chronic illness which has required prolonged anticoagulation and other prevention strategies to avoid recurrences. This article reviews recent developments regarding unprovoked venous thromboembolism and its relation with thrombophilia. In the beginning, the latest definition of idiopathic venous ...

The present report deals with the clinical phenomenology of three members (brothers) of one family with McLeod syndrome (MLS). In two, the clinical pictures were of choreiform disorders with amyotrophy, which were found to be neurogenic in origin by detailed electrophysiological study. The index case had peripheral acanthocytosis; immunohematological and ...

Background: The aim of this paper is to describe the clinical features and molecular findings of a unique case of Leber's hereditary optic neuropathy (LHON)/mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome presenting as nonischemic central retinal vein occlusion (CRVO). Methods: An 11-year-old Chinese girl presented with sudden ...

Susac's syndrome is the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss (Susac 1994) [1]. It occurs predominantly in young females and is believed to be an immune-mediated endotheliopathy of small vessels of the brain, retina and cochlea (Neumayer et al. 2009) [2]. Early, aggressive, and ...

Budd-Chiari syndrome is characterized by hepatic venous outflow obstruction. We describe a patient with a huge caudate lobe of the liver due to Budd-Chiari syndrome. A 49-year-old woman was referred to Nippon Medical School Hospital to receive treatment for enlarged gastric varices. She had been followed up for idiopathic portal ...