Usuario:Rjgalindo/WikiProyecto

Glosary of Conditions

Anencephaly. Failure of the brain to develop, due to lack of closure of the anterior Nerupore. Diagnosed with an increased concentration of Alpha-Fetoprotein (AFP). Think ANEncPHAly as AnteriorNEuropore-nce-alPHA FP-ly.

Aortic dissection. It's a dissecting aneurysm, easily confused with a miocardial infarction based on the pain.

Argyll Robertson pupil. A sign (prostitute's eye) found in patients with neurosyphilis (tabes dorsalis) where the pupils are bilaterally small, constrict as they accomodate to near objects but won't react to light. Argyll Robertson pupils are considered diagnostic for neurosyphilis.

Arnold-Chiari syndrome. Malformation of the brain that causes the cerebellar tonsils to herniate through the Foramen Magnum, also may have myelomeningocele, hydrocephalus and syringomyelia. Four types: type I (the most common) asymptomatic or at worst headaches and cerebellar symptoms; type II pronounced herniation accompanied by lumbar myelomeningocele and hydrocephalus—similar to Dandy-Walker Syndrome except that Arnold-Chiari has a low riding confluence of sinus (brian veins) whereas Dandy-Walker has a high possitioned confluence of sinuses (also called torcular herophili the connecting point of the straight, occipital and superior sagittal sinuses)—small posterior fossa which also distinguishes it from DWS; type III severe neurological defects associated with occipital myelomenigocele; type IV complete lack of cerebellar development (type I to IV: think worse and worse).

Bells Palsy. Lesion in the Facial Nerve's Lower Motor Neuron and results in complete paralysis in the affected side of the face. In most cases there's drooling, ptosis and a flattening of the nasolabial fold. It is often idiopathic and tends to resolve spontaneously.

Carbamoyl phosphate synthetase I deficiency. The enzyme transfers ammonia to a molecule of bicarbonate that has been phosphorylated by a molecule of ATP forming carbamoyl phosphate. The ammonia is brought into the mitochondria via glutamine or glutamate. The defect causes hyperammonemia.

Caroli disease. A congenital malformation of the bile duct system. Mnemonic: think of Madamme Caroli as Fat, Forty and Female, it will take you to the gallbladder.

'Choanal atresia. A congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue formed during fetal development. It can be unilateral or bilateral.

Chromosome 17. Diseases related to human chromosome 17 include:

• Bladder cancer
• Breast cancer
• Cystinosis
• Depression
• Ehlers-Danlos syndrome
• Galactosemia
• Glycogen storage disease type II (Pompe disease)
• Li-Fraumeni syndrome
• Neurofibromatosis type I
• Osteogenesis Imperfecta, Type I, II, III, and IV
• Very long-chain acyl-coenzyme A dehydrogenase deficiency

Citrullinemia. An autosomal recessive disorder of the urea cycle that cuases hyperammonemia.​ Type I appears in infancy and becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they develop a life threatening lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Type II appears in adulthood, primarily reported in people from East Asian and Middle Eastern populations.

Cleft lip. Appears due to failure of one of the embryonic maxillary processes doesn't fuse with the midline intermaxillary segment of the upper lip. For unknown reasone, this tends to happen more often on the left side than on the right. A bilateral cleft lip will resutl when both maxillary processes fail to fuse with the intermaxillary segment.

Craniopharyngioma. A type of benign, very slow growing brain tumor derived from pituitary gland embryonic tissue,​ that occurs most commonly in children but also in men and women in their 50s and 60s.​ It arises from the Rathke pouch: nests of odontogenic (tooth-forming) epithelium within the suprasellar/diencephalic region and, therefore, contains deposits of calcium, which are evident on an x-ray. Histologically, craniopharyngiomas may be cystic pattern of nesting squamous epithelium. Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, as the tumor may compress the optic chiasm.

CREST syndrome. A milder form of scleroderma characterized by calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. Anti-centromere antibodies are diagnostic.

Dandy-Walker syndrome. Unlike Arnold-Chiari Malformation, it has a large posterior fossa and a high location of the conluence of the sinus (the connecting point of the straight, occipital and superior sagittal sinuses). Think DWS: Dilated 4th ventricle, Water in the brain (hydrocephalus), Small Vermis.

DiGeorge syndrome. Impaired development of the third and fourth pharyngeal pouches because of a deletion within the long arm (q) of chromosome 22. Patients develop without a thymus and parathyroid glands, resulting in T-cell immunodeficiency and hypocalcemic tetany. Characteristic birth defects include congenital heart disease, defects in the palate (most commonly related to neuromuscular problems with closure: velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, recurrent infections, kidney abnormalities and significant feeding difficulties as babies. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features.​ Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of schizophrenia.​ Salient features can be summarized using the mnemonic CATCH-22 to describe DiGeorge's syndrome, with the 22 to remind one the chromosomal abnormality is found on the 22 chromosome, as below:​

Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism.

Dissecting aneurysm (also called aortic dissection), characterized by pain that shifts downwards towards the abdomen with time. Too often confused clinically with myocardial infarction.

Fetal Alcohol syndrome. Babies born to alcoholic mothers: most common cause of mental retardation. Growth and mental retardation, peculiar facial features, cardiac septal defects.

Fridreich's ataxia. An inherited disease (autosomal recessive) that causes progressive damage to the nervous system, resulting in diffuse neuronal loss of the posterior white column, the dentate nuclei and the spinocerebellar tract. It is the most common cause of congenital ataxia (lack of voluntary coordination of muscle movements) characterized by gait disturbance muscle weakness, vision, hearing and speech problems; commonly associated with heart disease and diabetes.

Horner's syndrome.

Hydrocephalus. Buildup of CSF within the ventricles and the subarachnoid space, caused by a congenital blockage of the cerebral aqueducts. Infectious correlation with cytomegalovirus and toxoplasmosis. Communicating hydrocephalus isn't obstructive, it has an abnormal absorption of CSF due to blockage in the subarachnoid space. Non-communicating hydrocephalus is the obstructive type, blocking CSF flow. Obstruction can be in the Foramen of Luschka, the 4th ventricle, the Aqueduct of Sylvius, the Foramen of Monro or the Foramen Magnum.

Malrotation of the intestine. A congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen). As a result:

• the small bowel is found predominantly on the right side of the abdomen
• the cecum is displaced (from its usual position in the right lower quadrant) into the epigastrium - right hypochondrium
• the ligament of Treitz is displaced inferiorly and rightward; that is the suspensory muscle of duodenum and connects the duodenum of the small intestines to the diaphragm
• fibrous bands (of Ladd) course over the horizontal part of the duodenum, causing intestinal obstruction.
• the small intestine has an unusually narrow base, and therefore the midgut is prone to volvulus (a twisting that can obstruct the mesenteric blood vessels and cause intestinal ischemia). This can lead to a number of disease manifestations such as:
• Acute/chronic midgut volvulus
• Acute/chronic duodenal obstruction
• Internal herniation
• Superior mesenteric artery syndrome

Meckel's diverticulum. At approximately the sixteenth day of human development, the embryo begins to fold ventrally (with the embryo's ventral surface becoming concave) in two directions: the sides of the embryo fold in on each other and the head and tail fold toward one another. The result is that a piece of the yolk sac, an endoderm-lined structure in contact with the ventral aspect of the embryo, begins to be pinched off to become the primitive gut. The yolk sac remains connected to the gut tube via the vitelline duct. Usually this structure regresses during development; in cases where it does not, it is known as Meckel's diverticulum. It's the most frequent malformation of the gastrointestinal tract.

N-Acetylglutamate synthase deficiency. Also called Type I Hyperammonemia. Defect in the production of carbamoyl phosphate, the very first reaction of the urea cycle, caused by malfunctioning of the enzyme carbamoyl phosphate synthase I. N-Acetylglutamate, which in turn is synthesized from acetyl-CoA and glutamic acid (a reaction catalyzed by the enzyme N-Acetylglutamate synthase), is required as an activator of carbamoyl phosphate synthase I. A deficiency in N-Acetyl glutamate synthase will also cause a defect in the production of carbamoyl phosphate. In both cases, hyperammonmia is the consequence, which tends to be fatal for the newborn shortly after birth. The defect of N-Acetylglutamate synthase is caused by a single base deletion that leads to a frameshift mutation within chromosome 17.

Ornithine transcarbamylase deficiency.

Progressive systemic sclerosis. Another name for scleroderma.

Raynaud disease. Vasospasm of vessels that causes temporary ischemia in the hands and fingers.

Scleroderma. Also called progressive systemic sclerosis, is characterized by progressive fibrosis of skin and internal organs.

Sjögren syndrome. An autoimmune disease characterized by dry eyes and dry mouth. Positive anti-SS-A and anti-SS-B are diagnostic of Sjögren syndrome. If it is associated with rheumatoid arthritis, anti-RNP will be positive as well.

Spina Bifida. Failure of closure of the posterior neuropore. Spina Bifida Oculta: mild form, caused when the vertebral bodie doesn't close around the spinal cord-may have a tuff of hair on the skin of the back-; Spinal Meningocele (spina bifida cystica) caused when the meninges extend out of the open spinal canal; Meningomyelocele: both the meninges and the spinal colrd protrude out of the spinal canal; Rachischisis: neural tissue extend so far out it can be visible externally (the worst form). Think Meningocele as only the meninges and Meningomyelocele as both Meninges and myelo (spinal) cord. The risk of Spina Bifida can be reduced by pregnant women taking folate supplements.

Systemic lupus erythematosus. Autoimmune disease characterized by vasculitis, rash, renal disease, hemolytic anemia, and neurologic disturbances.

• Drug induced lupus; a milder variant of systemic lupus erythematosus and tend to have arthritis, pleuropericardial involvement, but, unlike SLE, it's less common to see a rash. The classical CNS and renal disease of SLE are not usually observed indrug induced lupus. Finding high autoantibody titers to histones without any other autoantibodies is characteristic of drug-induced lupus. The most commonly implicated drugs are procainamide, hydralazine (given for hypertension), and isoniazid.

Systemic sclerosis. A diffuse variant of scleroderma that causes fibrosis of the skin and internal viscera. Diagnostically characterized by anti-SCL-70 although often shows low titers of many other autoantibodies.

Tabes dorsalis. A form of tertiary syphilis (neurosyphilis) seen 10 to 25 years or longer after primary disease, characterized by lesion of the fasciculus gracilis in the dorsal column, which cause loss of touch, vibration and tactile information. Probably caused as a result of damage to the dorsal root ganglion cells.