The diagnosis of scapuloperoneal syndrome was based on clinical features including foot drop as an 'invariable early sign,' proximal arm weakness always preceding hand weakness, and scapular winging on examination of all patients.
X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.
Clinical Features Albrecht et al. (1993) reported what they considered to be a 'new' syndrome in 3 sibs (2 females and 1 male) with severe neonatal encephalopathy manifested clinically by microcephaly, myoclonus, and muscular hypertonia.
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Epidemiology Pontocerebellar hypoplasia type 4 (PCH4) has been reported in 10 families to date. Clinical description PCH4 is characterized prenatally by polyhydramnios. Neonates present with microcephaly, central apnea requiring respiratory support, dysmorphism (sloping forehead, midface hypoplasia, micrognathia), congenital arthrogryposis (50%), severe clonus, and hypertonia.
Clinical Features Scapuloperoneal syndrome was initially described by Jules Broussard (1886) as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
MYH7 -related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.
The possibility that this represents a manifestation of a form of the Ehlers-Danlos syndrome comes to mind (VAM). Pathogenesis Connell et al. (2008) found that the uterosacral ligaments of 18 women with pelvic organ prolapse showed approximately 75-fold and 17-fold lower expression of HOXA11 (142958) and collagen III (COL3A1; 120180), respectively, compared to controls.
Diagnostic methods Diagnosis requires a typical clinical syndrome and either laboratory confirmed CFTR protein dysfunction or presence of two disease-causing mutations of CFTR on heteroalleles.
Intussusception, a condition in which a segment of the intestine slides inside an adjacent section of the intestine like a collapsible telescope, also can occur. Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine.
Resultant hypoproteinemia may be severe enough to cause generalized edema. [20] Individuals with CF also have difficulties absorbing the fat-soluble vitamins A , D , E , and K . [30] In addition to the pancreas problems, people with CF experience more heartburn , [30] intestinal blockage by intussusception , and constipation . [31] Older individuals with CF may develop distal intestinal obstruction syndrome when thickened feces cause intestinal blockage. [30] Exocrine pancreatic insufficiency occurs in the majority (85% to 90%) of patients with CF. [20] It is mainly associated with "severe" CFTR mutations, where both alleles are completely nonfunctional (e.g. ... Among adults with CF, median survival posttransplant is about 9 years." [128] Other aspects [ edit ] Intracytoplasmic sperm injection can be used to provide fertility for men with cystic fibrosis Newborns with intestinal obstruction typically require surgery, whereas adults with distal intestinal obstruction syndrome typically do not. Treatment of pancreatic insufficiency by replacement of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins that would otherwise be lost in the feces.
Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; p ersistent coughing; f requent lung infections; w heezing or shortness of breath; p oor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility . Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive. Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement , and nutritional supplements.
The distal intestinal obstruction syndrome is a 'meconium ileus equivalent' that occurs in adolescents and adults with CF. ... The fact that no patient with a combination of cystic fibrosis and a genetic syndrome due to a second affected locus in close vicinity to the CF locus has been described suggests that deletions are rare. ... Mekus et al. (2003) concluded that disease manifestation in CF is modulated by loci in the partially imprinted region 3-prime of CFTR that determine stature, food intake, and energy homeostasis, such as the Silver-Russell syndrome (180860) candidate gene region and LEP. ... Mutesa et al. (2009) concluded that some cases of CF-like syndrome in Africa may be associated with mutations in CFTR and ENaC genes.
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky.
CNS involvement can cause cerebellar and pyramidal syndromes, headaches, seizures, cognitive impairment, cranial nerve palsies and sensory disturbances.
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body. It has been diagnosed in children, but it most commonly affects adults. ECD causes the over-production of immune cells called histiocytes , which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long bones, retroperitoneum , skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected. The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement.
Erdheim–Chester disease Other names Erdheim–Chester syndrome or Polyostotic sclerosing histiocytosis Chester-Erdheim disease Specialty Oncology Erdheim–Chester disease (ECD) is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes , or tissue macrophages (technically, this disease is termed a non- Langerhans-cell histiocytosis ).
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure. People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination.
Philadelphia: Saunders Elsevier, 2007. 176-177. v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc.
PMID 26018641 . v t e Disease of the pancreas and glucose metabolism Diabetes Types type 1 type 2 gestational MODY 1 2 3 4 5 6 Complications See Template:Diabetes Abnormal blood glucose levels Hyperglycaemia Oxyhyperglycemia Hypoglycaemia Whipple's triad Insulin disorders Insulin resistance Hyperinsulinism Rabson–Mendenhall syndrome Other pancreatic disorders Insulinoma Insulitis This article about an endocrine, nutritional, or metabolic disease is a stub .
. ^ MIL-STD-1472F, Military Standard, Human Engineering, Design Criteria For Military Systems, Equipment, And Facilities (23 Aug 1999) PDF External links [ edit ] "Amsler Grid" Test from Ossibus Software Blind spots Blind spot map tool v t e Phenomena of the visual system Entoptic phenomena Blind spot Phosphene Floater Afterimage Haidinger's brush Prisoner's cinema Blue field entoptic phenomenon Purkinje images Other phenomena Aura Form constant Scintillating scotoma Palinopsia Visual snow Afterimage on empty shape Cosmic ray visual phenomena Scotopic sensitivity syndrome Closed-eye hallucination
Description Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy.
A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.
Carcinoma of the gallbladder (see this term), benign strictures and Mirizzi syndrome should be excluded. Management and treatment Surgical resection is the only potentially curative treatment for CCA but recurrences after surgery are frequent.
Control programs aimed at discouraging the consumption of raw and undercooked food have been successful at reducing the incidence of cholangiocarcinoma in some countries. [21] People with chronic liver disease, whether in the form of viral hepatitis (e.g. hepatitis B or hepatitis C ), [22] [23] [24] alcoholic liver disease , or cirrhosis of the liver due to other causes, are at significantly increased risk of cholangiocarcinoma. [25] [26] HIV infection was also identified in one study as a potential risk factor for cholangiocarcinoma, although it was unclear whether HIV itself or other correlated and confounding factors (e.g. hepatitis C infection) were responsible for the association. [25] Infection with the bacteria Helicobacter bilis and Helicobacter hepaticus species can cause biliary cancer. [27] Congenital liver abnormalities, such as Caroli's syndrome (a specific type of five recognized choledochal cysts ), have been associated with an approximately 15% lifetime risk of developing cholangiocarcinoma. [28] [29] The rare inherited disorders Lynch syndrome II and biliary papillomatosis have also been found to be associated with cholangiocarcinoma. [30] [31] The presence of gallstones ( cholelithiasis ) is not clearly associated with cholangiocarcinoma.
Description Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology. Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas.
Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.
A number of different causes (68) have been documented. [1] Contents 1 Differential diagnosis 1.1 Anal fissures 1.2 LAS and proctalgia fugax 1.3 Anorectal abscess 1.4 Infections 1.5 Other 2 References 3 External links Differential diagnosis [ edit ] Anal fissures [ edit ] One of the most common causes of rectal pain is an anal fissure . [2] It involves a tear in the anal canal probably due to trauma from defecation [3] and are usually treated effectively with sitz baths , stool softeners, and analgesics. [2] LAS and proctalgia fugax [ edit ] Two more highly common causes of functional anorectal pain are levator ani syndrome (LAS) and proctalgia fugax . Both of these conditions are thought to be caused by muscle spasms of the either the levator ani muscle or the anal sphincter muscle respectively, and may overlap symptomatically with a third less-common condition called coccygodynia which is the result of previous trauma to the coccyx bone.
They are mostly observed in diseases such as Myelodysplastic syndrome (MDS) , sideroblastic anemia , hemolytic anemia , lead poisoning and sickle cell disease .
It can often be confused for Hirschsprung's disease , as both have similar symptoms. [1] Contents 1 Presentation 2 Diagnosis 3 Treatment 4 Society 5 References 6 External links Presentation [ edit ] IND can be grouped into NID A and NID B, with the "A" form affecting the sympathetic innervation, and the "B" version affecting the parasympathetic innervation. [2] [3] In 2002 Martucciello and colleagues published the first analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families).
Harris et al. (1976) described 2 male sibs with mandibular teeth present at birth, patent ductus arteriosus (see 607411), and intestinal pseudoobstruction evident from birth. Vomiting of bile stain material began soon after birth, and there was no passage of meconium. The older brother died at 5 months of age despite 2 gastrointestinal operations and ligation of the patent ductus arteriosus which had led to cardiac failure. The younger brother died at the age of 6 weeks. Either autosomal or X-linked recessive inheritance is possible.
Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.