Some of the reported patients also displayed hypoglycaemia, spastic quadriparesis, microcephaly, progressive neurological deficit, seizures, vomiting, atrophy of the basal ganglia, severe hypotonia and hepatomegly. Etiology The syndrome is caused by mutations in the AUH gene (chromosome 9) encoding 3-methylglutaconyl-CoA hydratase, an enzyme involved in leucine degradation. ... Antenatal diagnosis Prenatal diagnosis should be possible through detection of high levels of 3-hydroxyisovaleric acid in the amniotic fluid or through enzyme analysis of cultured amniocytes. Genetic counseling The syndrome is inherited as an autosomal recessive trait.
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain . In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).
Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. ... Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7; 616271), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia.
Clinical description Acute infection is characterized by cutaneous manifestations such as serpiginous urticarial rash, cough, dyspnea, gastrointestinal symptoms (including pain and soft stools) and allergic manifestations; however over half of infected individuals remain asymptomatic. Strongyloides hyperinfection syndrome (SHS) may occur in patients with underlying illness such as HTLV1 infection or those undergoing corticosteroids or immunosuppressive treatment and often results in sepsis, shock, and acute respiratory distress syndrome.
Strongyloidiasis is a parasitic disease caused by the roundworm Strongyloides stercoralis (S. stercoralis). People catch the infection when they come in contact with soil contaminated with the worms. While there are often no symptoms, abdominal pain, cough, diarrhea, rash, unintentional weight loss and vomiting may occur. The infection is treated with anti-worm medications such as ivermectin . Strongyloidiasis is found in tropical and subtropical areas, but can also be found in temperate regions, including the southern United States.
Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. ... Clinical description Based on recent advances in the genetics of autoimmune enteropathy as well as the pathophysiology and clinical presentation, autoimmune enteropathy can be classified into three different types: the classical form of autoimmune enteropathy, identical to the so-called immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX) syndrome (autoimmune enteropathy type 1); autoimmune enteropathy type 2 (without extra-intestinal manifestations) and autoimmune enteropathy type 3 (in girls).
Assmann et al. (1997) questioned whether this was 1 disorder or 2 independent recessive disorders or whether it represented a contiguous gene syndrome. The patient of Assmann et al. (1997) was of Turkish extraction; 1 of the 2 cases of dihydropyrimidinuria that had previously been described was also Turkish.
Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium. Epidemiology Prevalence data are not available. Less than 200 cases have been reported to date. There is a male predominance, with a sex ratio of 1.5:1. Clinical description Two clinical forms of MVID have been described: an early-onset form, developing within hours or days of birth, and a late-onset form, occurring in the first months of life. In both, intractable, watery diarrhea is profuse and leads to severe metabolic acidosis, dehydration, malabsorption and failure to thrive. Total parenteral nutrition is necessary, however, in some later-onset cases, partial oral absorption has been described.
Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop normally. Management is difficult and relies on total parenteral nutrition . The advent of intestinal transplantation has improved the outlook for these patients. Microvillus inclusion disease is inherited in an autosomal recessive manner.
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis ). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile.
Pathophysiology [ edit ] It is caused by a congenital atrophy of apical microvilli and intracellular accumulation of apical enzymes in the epithelial cells of the small intestine. [4] Diagnosis [ edit ] Prenatal screening in utero is currently offered by several medical centers since the gene (s) involved in the disease were recently discovered to be MYO5B ; [5] [6] Diagnosis is typically made by biopsy of the small intestine. [1] Biopsy [ edit ] The appearance of microvillous inclusion disease on light microscopy is similar to celiac sprue ; however, it usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue and stains positive for carcinoembryonic antigen (CEA). [2] The definitive diagnosis is dependent on electron microscopy . [7] Differential diagnosis [ edit ] The differential diagnosis of chronic and intractable diarrhea is: [8] Intestinal epithelial dysplasia Syndromatic diarrhea Immunoinflammatory enteropathy Prognosis [ edit ] It is nearly always fatal unless, like short bowel syndrome patients, treated with parenteral nutrition or an intestinal transplant . [3] The patient is often classified as being in "intestinal failure" and treated with the cohort of patients known as "short bowel syndrome" patients. ... "Infantile food protein-induced enterocolitis syndrome". In David, Timothy J (ed.). Recent Advances in Paediatrics 22 . ... PMID 16800870 . ^ Davidson GP, Cutz E, Hamilton JR, Gall DG (1978). "Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy" .
However, pancreatic ducts are not affected in either PDX1 deficiency or HLXB9 deficiency. Patients with Alagille syndrome (see 118450) have paucity or absence of intrahepatic bile ducts, but congenital absence of the interlobular bile ducts has not been noted, and pancreatic ducts are normal. One feature of Meckel syndrome (249000) is hepatic ductal dysplasia, but complete defects of both bile and pancreatic ducts has not been described.
Foremost among the heritable disorders of connective tissue associated with this complication is Ehlers-Danlos syndrome type IV (130050); Marfan syndrome (154700) is another (Schievink et al., 1994).
A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.
It may occur at any time, and has multiple causes. [1] [2] Contents 1 Examples 2 See also 3 References Examples [ edit ] Acquired pure red cell aplasia Aplasia cutis congenita Aplastic anemia Germ cell aplasia, also known as Sertoli cell-only syndrome Radial aplasia Thymic aplasia, which is found in DiGeorge syndrome and also occurs naturally as part of the gradual loss of function of the immune system later in life See also [ edit ] Atrophy Hyperplasia Hypoplasia Neoplasia List of biological development disorders References [ edit ] ^ a b Stedman's medical dictionary .
Mutations in this gene may also cause Faisalabad histiocytosis, Rosai-Dorfman disease, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
The mutated protein has structural defects hence hinders normal function in the signalling pathway, contributing to development of the disease. [14] [15] Cytogenetic location of SLC29A3 [16] SLC29A3 mutation [ edit ] The SLC29A3 gene is present in chromosome locus10q22.1, which encodes for the equilibrative nucleoside transporter 3 (ENT3), a nucleoside transporter that is present in membranes of mitochondria and lysosomes . [9] ENT3 is responsible for the trafficking of nucleoside, free purines and pyrimidines into the mitochondria and out of lysosomes. [9] [16] Mutations in the gene is often accompanied by histiocytosis-lymphadenopathy plus syndrome , which is characterised by the accumulation of histiocytes leading to lymphadenopathy and other symptoms. [16] Insertion in the coding region was reported in a patient but no records were found in any genetic databanks. ... Biopsy may also be required if necessary. [1] [17] Signs and symptoms of DSS show similarities with multifarious disorders and diseases such as osteosclerosis, H syndrome and Pyle disease . [1] [17] As such, it is likely that DSS is consequently incorrectly identified as osteopertrosis . [4] Therefore, additional tests may be performed in order to arrive at a definitive diagnosis. [1] [17] Prognosis and management [ edit ] Overall the disease has a poor prognosis, with treatment mainly focusing on palliation and comfort care. [2] As the mechanism and clinical course of DSS remains unclear, definitive treatment is not available for patients.
Clinical Features Spranger et al. (1968) used the term dysosteosclerosis to distinguish a syndrome chiefly characterized by osteosclerosis and platyspondyly.
Etiology Central hypothyroidism usually results from defects of TSH production and is often part of a disorder causing congenital hypopituitarism (see this term), in which case the clinical signs may also include septo-optic dysplasia or cleft lip and/or palate as well as other signs of hypopituitarism, or part of a larger genetic syndrome such as pituitary stalk interruption syndrome (see this term).
Diduszyn et al. (2002) reported bilateral visual loss in a patient with optic disc drusen (ODD) and POEMS syndrome (see 192240). Visual loss occurred when the patient developed peripapillary choroidal neovascularization and subsequent hemorrhage in the subretinal space. The authors hypothesized that the elevated VEGF (192240) due to POEMS syndrome might have played a role in the development of choroidal neovascularization.
ISBN 9788131225486 v t e Male diseases of the pelvis and genitals Internal Testicular Orchitis Hydrocele testis Testicular cancer Testicular torsion Male infertility Aspermia Asthenozoospermia Azoospermia Hyperspermia Hypospermia Oligospermia Necrospermia Teratospermia Epididymis Epididymitis Spermatocele Hematocele Prostate Prostatitis Acute prostatitis Chronic bacterial prostatitis Chronic prostatitis/chronic pelvic pain syndrome Asymptomatic inflammatory prostatitis Benign prostatic hyperplasia Prostate cancer Seminal vesicle Seminal vesiculitis External Penis Balanoposthitis / Balanitis Balanitis plasmacellularis Pseudoepitheliomatous keratotic and micaceous balanitis Phimosis Paraphimosis Priapism Sexual dysfunction Erectile dysfunction Peyronie's disease Penile cancer Penile fracture Balanitis xerotica obliterans Other Hematospermia Retrograde ejaculation Postorgasmic illness syndrome This article about a disease of the genitourinary system is a stub .
Splinter hemorrhage Splinter hemorrhage on a fingernail of the little finger Differential diagnosis subacute infective endocarditis, scleroderma, trichinosis, systemic lupus erythematosus (SLE), rheumatoid arthritis, psoriatic nails, antiphospholipid syndrome Splinter hemorrhages (or haemorrhages ) are tiny blood clots that tend to run vertically under the nails. Splinter hemorrhages are not specific to any particular condition, and can be associated with subacute infective endocarditis , scleroderma , trichinosis , systemic lupus erythematosus (SLE), rheumatoid arthritis , psoriatic nails , [1] antiphospholipid syndrome , [2] : 659 haematological malignancy, and trauma. [3] At first they are usually plum-colored , but then darken to brown or black in a couple of days.
Cohen et al. (1951) reported a pioneer study of a disorder that they referred to as neurocirculatory asthenia (NCA; also anxiety neurosis, effort syndrome). The families of 139 patients with neurocirculatory asthenia and of 80 control subjects were investigated. ... In a review, Schumacher et al. (2011) noted that the estimated heritability of panic disorder is 48%, and that most cases show complex genetic inheritance. Panic Disorder Syndrome Associated with Bladder/Kidney Conditions In a study of 34 families with panic disorder, Weissman et al. (2000) identified a subgroup of 19 families with a 'syndrome' consisting of bladder or kidney conditions, thyroid problems, migraines and other serious headaches, and mitral valve prolapse. Not all of the individuals with the 'syndrome' had panic disorder. Bladder and kidney problems included frequent infections, enuresis after age 5 years, urinary frequency or retention, and rare structural abnormalities. ... Family members of those with interstitial cystitis, both with and without panic disorder, had elevated rates of the 'syndrome' compared to controls. Panic Disorder with Joint Laxity Gratacos et al. (2001) studied 7 pedigrees in which multiple members were affected by panic/phobic disorders and joint laxity. ... A score of 4.2 was obtained when individuals with 1 or more of the 'syndrome' conditions were considered as affected.
Causes include hypoxia , meconium aspiration, and respiratory distress syndrome. Left untreated, this can lead to hypoxic respiratory failure (HRF). [1] Decreased diameter of pulmonary vessels with hypertrophy of vessel walls : This has a poor prognosis, as it is a fixed abnormality. ... In low-resource environments, it is recommended to focus on five main bundles of management: [16] Increasing oxygen supply Decreasing oxygen demand Facilitating gas exchange Inducing pulmonary vasodilation Fixing metabolic disturbances Epidemiology [ edit ] It occurs in 1–2 infants per 1000 live births. [17] It is more common in males and in areas with higher altitudes. [18] Additionally, two percent of infants with respiratory distress syndrome develop PPHN. [3] References [ edit ] ^ a b c d Jain A, McNamara PJ (August 2015). ... External links [ edit ] Classification D ICD - 10 : P29.3 ICD - 9-CM : 747.83 MeSH : D010547 DiseasesDB : 29889 External resources eMedicine : ped/2530 v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries ) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled. In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide.