Diseases

Neonatal alloimmune thrombocytopenia

Neonatal alloimmune thrombocytopenia (NAITP, NAIT, NATP or NAT) is a disease that affects babies in which the platelet count is decreased. Platelet antigens are inherited from both mother and father. NAIT is caused by antibodies specific for platelet antigens inherited from the father but which are absent in the mother. Fetomaternal transfusions (or fetomaternal hemorrhage) results in the recognition of these antigens by the mother's immune system as non-self, with the subsequent generation of allo-reactive antibodies which cross the placenta. NAIT, hence, is caused by transplacental passage of maternal platelet-specific alloantibody and rarely human leukocyte antigen (HLA) allo-antibodies (which are expressed by platelets) to fetuses whose platelets express the corresponding antigens. NAIT occurs in somewhere between 1/800 and 1/5000 live births. More recent studies of NAIT seem to indicate that it occurs in around 1/600 live births in the Caucasian population.

Neonatal Hemochromatosis

Neonatal hemochromatosis is a syndrome in which severe liver disease of fetal or perinatal onset is associated with deposition of stainable iron in extrahepatic sites. The distribution of extrahepatic iron mimics that observed in hepatic iron (HFE) disease, the most common form of hemochromatosis known in Europe and the Americas, and liver disease is common in late-stage HFE disease. Nonetheless, neonatal hemochromatosis is not a manifestation of HFE disease. Neonatal hemochromatosis is not a single disorder but is a syndrome with an unclear etiology. Neonatal hemochromatosis represents disordered iron handling due to injury to the perinatal liver. Neonatal hemochromatosis can be thought of as a form of fulminant hepatic failure. Four pieces of evidence suggest that neonatal hemochromatosis may be due to an acquired and persistent maternal factor. (1) Neonatal hemochromatosis recurs within sibships at a rate higher than expected for disorders transmitted in an autosomal recessive manner. (2) Several kindreds are known in which mothers have given birth to children with neonatal hemochromatosis who were fathered by different men. (3) Several kindreds are known in which parents of children with neonatal hemochromatosis had histories of exposure to blood with or without clinical hepatitis. (4) Anecdotal evidence suggests that administering intravenous immunoglobulin during pregnancy in a woman who has already had an infant with neonatal hemochromatosis leads to a relatively favorable outcome. This data suggest mitochondrial disease; transplacental transmission of an infective, possibly viral, agent; or transplacental transmission of an antibody as a cause of at least some instances of neonatal hemochromatosis. Because neonatal hemochromatosis is a syndrome, any of these possibilities may be correct in a given family, and all of them must be considered. Treatment after birth requires supportive care with or without administration of an iron-chelating cocktail and several antioxidants. Liver transplantation has saved some babies. Liver disease ascribed to siderosis has not recurred in survivors to date.

Neonatal herpes

Neonatal herpes is the term used when a baby develops symptoms of herpes infection before he/she is born or within the first 6 weeks of life. It may occur when the baby is still in the womb (intra uterine/congenital infection) (

Neonatal jaundice hyperbilirubinemia

Neonatale jaundice hyperbilirubinemia(also known as Neonatal jaundice or neonatal hyperbilirubinemia, or neonatal icterus from the Greek word ἴκτερος), attributive adjective: icteric, is a yellowing of the skin and other tissues of a newborn infant. A bilirubin level of more than 85 μmol/l (5 mg/dL) leads to a jaundiced appearance in neonates whereas in adults a level of 34 μmol/l (2 mg/dL) is needed for this to occur. In newborns, jaundice is detected by blanching the skin with pressure applied by a finger so that it reveals underlying skin and subcutaneous tissue. Jaundiced newborns have yellow discoloration of the white part of the eye, and yellowing of the face, extending down onto the chest.

Neonatal jaundice can make the newborn sleepy and interfere with feeding. Extreme jaundice can cause permanent brain damage from kernicterus.
In neonates, the yellow discoloration of the skin is first noted in the face and as the bilirubin level rises proceeds caudal to the trunk and then to the extremities. This condition is common in newborns affecting over half (50–60%) of all babies in the first week of life.

Infants whose palms and soles are yellow, have serum bilirubin level over 255 μmol/l (15 mg/dL) (more serious level). Studies have shown that trained examiners assessment of levels of jaundice show moderate agreement with icterometer bilirubin measurements. In infants, jaundice can be measured using invasive or non-invasive methods.

Neonatal ovarian cyst

Neonatal ovarian cyst: A rare cyst that develops in the lower abdomen of a female fetus

Neonatal progeroid syndrome

Neonatal progeroid syndrome syndrome (Wiedeman-Rautenstrauch syndrome) is an extremely rare genetic disorder characterized by an aged appearance at birth (neonatal progeroid appearance); growth delays before and after birth (prenatal and postnatal growth retardation); and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy), causing the skin to appear abnormally thin, fragile, and wrinkled. In addition, for reasons that are not understood, abnormal deposits of fat may accumulate around the buttocks, the areas around the genitals and the anus (anogenital area), and the area between the ribs and the hips (flanks).

Neonatal Systemic lupus erythematosus

Neonatal lupus erythematosus (NLE) is a rare disorder caused by the transplacental passage of maternal autoantibodies. Only 1% of infants with positive maternal autoantibodies develop NLE. The most common clinical manifestations are cardiac, dermatologic, and hepatic. Some infants may also have hematologic abnormalities. Most mothers at the time of childbirth are healthy and without signs or symptoms of lupus erythematosus or other collagen vascular disorders. Mothers of children with NLE may later develop an atypical rather than classic picture of systemic lupus erythematosus (SLE) or other connective tissue disorder. If a mother with anti-Ro autoantibodies has 1 child with NLE, the incidence in subsequent pregnancies is approximately 25%. The incidence of congenital heart block is 15-30% in infants with NLE.

Nephrocalcinosis

Nephrocalcinosis refers to increased calcium content of the kidneys. This term usually applies to a generalized increase in renal calcium content, as opposed to a localized increase that is observed in calcified renal infarct or caseating renal tuberculosis. Nephrocalcinosis can be divided into 3 categories based on the different presentations and clinical effects, as follows: * Chemical nephrocalcinosis: This implies an increased concentration of calcium within renal cells, chiefly the tubular epithelium, causing an adverse effect on renal structure and function. * Microscopic nephrocalcinosis: This refers to calcium precipitates in crystalline form as oxalate and/or phosphate, but it is only evident microscopically. * Macroscopic nephrocalcinosis: Large areas of calcification are observed on visual or radiologic examination without magnification. A certain degree of overlap exists among these despite the differing classification.

Nephrogenic diabetes insipidus

In nephrogenic diabetes insipidus, the kidneys produce a large volume of dilute urine because they fail to respond to antidiuretic hormone and are unable to concentrate urine. * Often this disorder is hereditary, but it can be caused by drugs or disorders that affect the kidneys. * Symptoms include excessive thirst and excretion of large amounts of urine. * Diagnosis is based on tests of blood and urine. * Drinking large amounts of water, restricting salt in the diet, and sometimes taking drugs reduce urine volume. Both diabetes insipidus and the better-known type of diabetes, diabetes mellitus, result in the excretion of large volumes of urine. Otherwise, the two types of diabetes are very different. Two types of diabetes insipidus exist. In nephrogenic diabetes insipidus, the kidneys do not respond to antidiuretic hormone (vasopressin), so they continue to excrete a large amount of dilute urine. In the other, more common, type (central diabetes insipidus), the pituitary gland fails to secrete antidiuretic hormone

Nephropathic cystinosis

Cystinosis is an inherited condition in which the body accumulates the amino acid cystine within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.

Nephropathy familial with hyperuricemia

Nephropathy familial with hyperuricemia: A rare inherited kidney disease characterized by early onset of gout, kidney failure and high blood uric acid level and low urine uric acid level. The uric acid level abnormalities are due to the kidneys reduced ability to excrete it into the urine

Nephrosclerosis

Benign hypertensive arteriolar nephrosclerosis is progressive renal impairment caused by chronic, poorly controlled hypertension. Symptoms and signs of chronic kidney disease may develop (eg, anorexia, nausea, vomiting, pruritus, somnolence or confusion), as may signs of end-organ damage secondary to hypertension. Diagnosis is primarily clinical, supported by routine laboratory test findings. Treatment is strict BP control and support of renal function. Benign hypertensive arteriolar nephrosclerosis results when chronic hypertension damages small blood vessels, glomeruli, renal tubules, and interstitial tissues. As a result, progressive chronic kidney disease develops. Benign nephrosclerosis progresses to end-stage renal disease in only a small percentage of patients. However, because chronic hypertension and benign nephrosclerosis are common, benign nephrosclerosis is one of the most common diagnoses in patients with end-stage renal disease. It is termed benign to distinguish it from malignant arteriolar nephrosclerosis, which is a synonym for hypertensive emergency (see Arterial Hypertension: Hypertensive Emergencies). Risk factors include older age, poorly controlled moderate to severe hypertension, and other renal disorders (eg, diabetic nephropathy). Blacks are at increased risk; it is unclear if the risk is increased because poorly treated hypertension is more common among blacks or because blacks are more genetically susceptible to hypertension-induced renal damage.

Nephrotic syndrome ocular anomalies

Nephrotic syndrome ocular anomalies: A rare disorder characterized by the association of particular eye anomalies with kidney disease. Kidney failure occurs before or soon after birth with death occurring within months of birth.

Nephrotic syndrome- idiopathic- steroid-resistant

Nephrotic syndrome is a condition where the kidneys leak protein from the blood into the urine. Corticosteroids are used in the first instance to achieve remission. Some children do not respond to this treatment and other agents such as cyclophosphamide, chlorambucil, cyclosporin or ACE inhibitors may be used. This review found that when cyclosporin was compared to placebo or no treatment there was a significant increase in the number of children who achieved complete remission. There was no improvement with other immunosuppressive agents. However the number of studies were small

Nerve sheath neoplasm

Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.

Nesidioblastosis of pancreas

Nesidioblastosis of pancreas: A rare genetic disorder where abnormal islets of Langerhans cells in the pancreas produce excess insulin which causes very low blood sugar levels. Untreated low blood sugar can cause permanent brain damage.

Netherton syndrome

Netherton syndrome is a rare inherited disorder that presents with the three following characteristics:

  • Ichthyosiform erythroderma – inflamed, red, scaly skin
  • Trichorrhexis invaginata ("bamboo hair") – short, brittle, lustreless hair
  • Atopic diathesis – predisposition to allergy problems (e.g., to nuts, hay fever, and asthma)

Individuals with Netherton syndrome may show some or all of these features with varying degrees of severity of their symptoms.

Neu Laxova syndrome

A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage

Neuhauser Daly Magnelli syndrome

Neuhauser-Daly-Magnelli syndrome: A very rare syndrome characterized by tremors, duodenal ulcers and involuntary eye movements (nystagmus)

Neuhauser Eichner Opitz syndrome

Neuhauser-Eichner-Opitz syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neuhauser-Eichner-Opitz syndrome, or a subtype of Neuhauser-Eichner-Opitz syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Neural tube defect- folate-sensitive

Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes

Neural tube defects X-linked

A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).

Neuraminidase deficiency with beta-galactosidase deficiency

Neuraminidase deficiency with beta-galactosidase deficiency also called Galactosialidosis, Goldberg syndrome,Cathepsin a deficiency. This means that Neuraminidase deficiency, or a subtype of Neuraminidase deficiency, affects less than 200,000 people in the US population.

Source - National Institutes of Health (NIH)

Neuritis with brachial predilection

Neuritis with brachial predilection: A neuromuscular disorder that tends to only affect the arm and hand. It causes muscle pain, weakness and wasting. Physical and emotional stress and pregnancy may trigger episodes. In rare cases the legs may be involved

Neuroblastoma

Neuroblastoma is a cancer that develops from immature nerve cells (neuroblasts) found in several areas of the body and most commonly arises in and around the adrenal glands, which have similar origins to nerve cells and sit atop the kidneys. However, neuroblastoma can also develop in other areas of the abdomen and in the chest, neck and near the spine, where groups of nerve cells exist.

Neuroblastoma most commonly affects children age 5 or younger, though it may rarely occur in older children.

Some forms of neuroblastoma go away on their own, while others may require multiple treatments.