Other special rinsing solutions may also be used. [9] [10] Inhaled HF may require oxygen therapy and tracheal intubation . [2] In this situation neutralized calcium gluconate may be used. [2] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s Schwerin, DL; Hatcher, JD (January 2019). ... PMID 28722859 . ^ a b c d e f g h i j k l Wang, X; Zhang, Y; Ni, L; You, C; Ye, C; Jiang, R; Liu, L; Liu, J; Han, C (December 2014).
The authors said that the consistent findings of gliosis shows that inflammation in central nervous system is a key factor in how the disease harms people. [1] References [ edit ] ^ a b c d e f g h i Nalini, A; Thennarasu, K; Yamini, BK; Shivashankar, D; Krishna, N (15 June 2008). ... ISBN 9780323413459 . ^ Meenakshisundaram, E; Jagannathan, K; Ramamurthi, B (December 1970). "Clinical pattern of motor neuron disease seen in younger age groups in Madras".
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Epidemiology Less than 200 cases have be reported to date, predominantly from Southern India. Isolated MMND cases have been reported from Thailand and Italy. Clinical description Onset occurs at a young age (often before the age of 15), with a slight male preponderance or equal sex distribution. Parental consanguinity has been reported in some cases. Main clinical features include thin habitus, wasting and weakness predominantly of the distal limb muscles, involvement of facial and bulbar muscles, and pyramidal dysfunction. Multiple cranial nerve palsies particularly involve the 7th, and the 9th to 12th cranial nerves.
Journal of the American Veterinary Medical Association . 179 (1): 79–82. PMID 7251465 . ^ Lloyd K, Hintz HF, Wheat JD, Schryver HF (April 1987). ... PMID 8230370 . ^ Tatekawa Y, Nakatani K, Ishii H, et al. (1996). "Small bowel obstruction caused by a medication bezoar: report of a case".
Journal of the American Chemical Society . 102 (15): 5107–108. doi : 10.1021/ja00535a053 . ^ Warabi K, Nakao Y, Matsunaga S, Fukuyama T, Kan, T, Yokoshima S, Fusetani N., K (2001).
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. Epidemiology Reported prevalence varies widely from 1/8,600 to 1/180,000, probably as a result of differing screening programs. Clinical description Histidinemia is defined biochemically as elevated histidine in blood, urine and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and the skin. In most individuals with histidinemia, the condition is clinically silent and considered benign, with no need for treatment or a specific diet. In a small subset of patients with specific events in the neonatal period, such as low oxygen, it has been suggested that histidinemia may contribute to development of intellectual disability, behavioral or learning disorders.
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition. The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders. Frequency Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people.
Histidinemia is an inherited metabolic condition characterized by elevated levels of the amino acid histidine in blood, urine, and cerebrospinal fluid. In most cases, people with this condition have no health problems and may not even know that they are affected. Individuals with histidinemia who also experience a medical complication during or shortly after birth (such as a temporary lack of oxygen), may be at an increased risk of developing intellectual disability, behavioral problems, or learning disabilities. Histidinemia is caused by changes (mutations) in the HAL gene. This gene provides instructions for making an enzyme called histidase, which breaks down histidine into a molecule called urocanic acid. If histidase doesn't do its job properly, histidine levels become elevated.
2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood.
A number sign (#) is used with this entry because short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by homozygous or compound heterozygous mutation in the gene encoding short/branched-chain acyl-CoA dehydrogenase (ACADSB; 600301). Description 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al.., 2008). Clinical Features Andresen et al. (2000) reported a 3-year-old boy, born of consanguineous Pakistani parents, who showed increasing hypotonia and delayed motor development in the second year of life.
A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine. Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria).
Some reports, however, suggest that a minority might develop hypertension . [5] Thin basement membrane disease may co-exist with other kidney diseases, which may in part be explained by the high prevalence of thin basement membrane disease. [6] References [ edit ] ^ Fujinaga S, Kaneko K, Ohtomo Y, et al. (February 2006). ... Nephrol . 21 (2): 277–80. doi : 10.1007/s00467-005-2095-2 . PMID 16362391 . ^ Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (October 2003).
A number sign (#) is used with this entry because some cases of benign familial hematuria (BFH) are caused by heterozygous mutation in the COL4A3 (120070) or the COL4A4 (120131) gene, both of which map to chromosome 2q36. Description Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). Clinical Features McConville et al. (1966) described dominant inheritance of benign familial hematuria.
Provide intravenous fluid with dextrose and intralipids to reverse catabolism while optimizing caloric intake: Initial intravenous infusion should be 10% dextrose (with 1/4 normal saline and 20 mEq/L KCl) at twice maintenance; ammonia and glucose/Na/K/Cl/CO 2 concentrations should be monitored every two hours or when neurologic status changes.
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine translocase deficiency varies widely in its severity and age of onset. Affected infants show signs and symptoms of ornithine translocase deficiency within days after birth.
A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction. Epidemiology More than 100 cases have been reported in the literature to date. The prevalence in Northern Saskatchewan, Canada is especially high due to a founder effect and is estimated in this population at 1/1550 live births. Clinical description Age of onset can range from the neonatal period to adulthood and a wide phenotypic spectrum is noted. The neonatal presentation usually begins a few days after birth with lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures.
A number sign (#) is used with this entry because of evidence that the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is caused by homozygous mutation in the SLC25A15 gene (603861), which encodes the mitochondrial ornithine transporter, on chromosome 13q14. Clinical Features Shih et al. (1969) reported a child with mental retardation and myoclonic seizures associated with hyperornithinemia, hyperammonemia, and homocitrullinemia. The findings were consistent with an inherited disorder of amino acid metabolism. Rodes et al. (1987) reported a family in which 2 brothers and a sister were affected with HHH syndrome. One patient had progressive spastic paraparesis. At least 2 of the individuals voluntarily avoided a high protein diet.
. ^ Goldstein RE, Billheimer D, Martin WH, Richards K (May 2003). "Sestamibi scanning and minimally invasive radioguided parathyroidectomy without intraoperative parathyroid hormone measurement" . ... PMID 12724639 . ^ a b c d Dsouza, Caren; Gopalakrishnan; Bhagavan, KR; Rakesh, K (2012). "Ectopic parathyroid adenoma".
A number sign (#) is used with this entry because of evidence that megalocornea (MCG1) is caused by mutation in the CHRDL1 gene (300350) on chromosome Xq23. Description Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation.
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.
Isolated congenital megalocornea affects the cornea , the part of the eye that lets in light. The symptoms of isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop by 30-50 years of age. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly.
Autosomal inheritance is much rarer than X-linked (309300). Megalocornea is often found in the Marfan syndrome (154700). HEENT - Large cornea Inheritance - Autosomal recessive much rarer than X-linked ▲ Close
., Withers, S., Thomas, M., Toi, A., Chong, K., Pai, A., Velscher, L., Vero, S., Keating, S., Taylor, G. and Chitayat, D. (2007), OEIS complex: prenatal ultrasound and autopsy findings.
A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. Epidemiology Prevalence at birth for EEC is reported at 1/10,000. Epispadias (E), classic bladder exstrophy (CEB) and EC are recognized clinical variants of the same spectrum, so accurate epidemiological data on E/EC/CEB are no longer available. The male-to-female ratio varies between studies; male or female predominance and a sex ratio close to unity have been described. Clinical description Patients present at birth with two exstrophied hemibladders separated by a foreshortened hindgut (often blind-ending resulting in an imperforate anus) or cecum. Omphalocele is found in 88-100% of patients and gastrointestinal (GI) malrotation/duplication and short bowel syndrome (see this term) are present in 46%, with absorptive dysfunction in some cases.
Dystrophinopathy Specialty Neurology Duration Long term Types Duchenne muscular dystrophy , Becker muscular dystrophy , DMD -associated dilated cardiomyopathy Causes Genetic (inherited or new mutation) Diagnostic method Genetic testing Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. [1] [2] [3] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD -associated dilated cardiomyopathy . [1] [2] [3] The mild end of the spectrum includes asymptomatic increases in serum creatine kinase and muscle cramps with myoglobinuria . [1] [2] [3] Because dystrophin is located on the X chromosome , dystrophinopathy mainly affects males, whereas females range from being carriers , [2] to having delayed-onset and mild disease, [3] to having severe DMD. [1] References [ edit ] ^ a b c d Darras, BT; Urion, DK; Ghosh, PS; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Stephens, K; Amemiya, A (1993). "Dystrophinopathies".
Description Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009). Clinical Features An association of holoprosencephaly, facial clefting, and bilateral amelia of the upper limbs was reported by Yim and Ebbin (1982) and Thomas and Donnai (1994) in 2 fetuses. Froster et al. (1996) described a female fetus with large anterior encephalocele, a cyst replacing the right eye, bilateral cleft lip and palate, bilateral brachial amelia, shortening of the left femur, defects of both fibulae, oligodactyly of feet (2 toes on the left and 3 toes on the right), scoliosis, omphalocele, ventricular septal defect, and bifid left ureter. Froster et al. (1996) suggested that the overlap of malformations in 3 sporadic cases may represent a distinct syndrome.
