A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF) . Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium.
Types include: Transfusion hemosiderosis [1] Idiopathic pulmonary hemosiderosis Transfusional diabetes [2] [3] Hemosiderin deposition in the lungs is often seen after diffuse alveolar hemorrhage , which occurs in diseases such as Goodpasture's syndrome , granulomatosis with polyangiitis , and idiopathic pulmonary hemosiderosis . ... The Guide for the Management of Transfusion Dependent Thalassaemia (TDT) 3rd edition, editors Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V, published and issued by the Thalassaemia International Federation (TIF Publication No23, 2017) External links [ edit ] Classification D MeSH : D006486 FerriScan - MRI-based test to measure iron overload v t e Metal deficiency and toxicity disorders Iron excess: Iron overload Hemochromatosis Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis deficiency: Iron deficiency Copper excess: Copper toxicity Wilson's disease deficiency: Copper deficiency Menkes disease / Occipital horn syndrome Zinc excess: Zinc toxicity deficiency: Acrodermatitis enteropathica Other Inborn errors of metabolism
A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.
A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.
The degenerative process in osteoarthritis chiefly affects the vertebral bodies, the neural foramina and the facet joints ( facet syndrome ). If severe, it may cause pressure on the spinal cord or nerve roots with subsequent sensory or motor disturbances, such as pain , paresthesia , imbalance , and muscle weakness in the limbs. ... External links [ edit ] Classification D ICD - 10 : M47 ICD - 9-CM : 721 OMIM : 184300 MeSH : D013128 DiseasesDB : 12323 External resources MedlinePlus : 000436 eMedicine : neuro/564 Patient UK : Spondylosis Wikimedia Commons has media related to Spondylosis . v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis
Overview Cervical spondylosis is a general term for age-related wear and tear affecting the spinal disks in your neck. As the disks dehydrate and shrink, signs of osteoarthritis develop, including bony projections along the edges of bones (bone spurs). Cervical spondylosis is very common and worsens with age. More than 85% of people older than age 60 are affected by cervical spondylosis. For most people, cervical spondylosis causes no symptoms. When symptoms do occur, nonsurgical treatments often are effective. Symptoms Most people experience no symptoms. When symptoms do occur, they typically include pain and stiffness in the neck.
From an x-ray study of the cervical spine in twins, Bull et al. (1969) concluded that genetic factors are significant in degenerative changes in the cervical spine. Haukipuro et al. (1978) described an extensive set of observations in a Finnish kindred descendant from two marriages of a man born in 1868. Spondylolysis was found in 22 of 105 persons x-rayed. Of these, 6 had also spondylolisthesis, 4 had spina bifida occulta, and 2 had a transitional lumbar-sacral vertebra. Of those without spondylolysis, 7 had spina bifida occulta and 10 had transitional vertebrae. The data were interpreted as consistent with autosomal dominance with about 75% penetrance for spondylolysis.
Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast. They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek). They are most common in women in their 30s and 40s, although women of any age can be affected. These tumors, which are usually painless, tend to grow quickly, but rarely spread outside of the breast. Most phyllodes tumors are benign. About 1 in 10 are cancerous. The underlying cause of these tumors in unknown.
A malignant mixed müllerian tumor (MMMT) , also called a carcinosarcoma , is a type of cancer that contains two types of cancer cells - carcinoma and sarcoma cells. These tumors usually develop in tissues of the female genital tract and are associated with a poor outcome. The majority of these tumors arise in the uterus, though they can also occur in the ovaries, fallopian tubes, and cervix. Very rarely, MMMTs can develop in the female peritoneum (lining of the abdominal wall).
Functional alpha cell hyperplasia [ edit ] Functional alpha cell hyperplasia differs from reactive and nonfunctional alpha cell hyperplasia in that the functional alpha cell hyperplasia is associated with hyperglucagonemia and the hyperglucagonemia results in glucagonoma syndrome. [16] Functional alpha cell hyperplasia is poorly characterized so far. ... "Glucagon cell adenomatosis: a new entity associated with necrolytic migratory erythema and glucagonoma syndrome". Journal of the American Academy of Dermatology . 65 (2): 458–9. doi : 10.1016/j.jaad.2010.04.010 .
Other major causes are stroke , trauma with nerve injury , poliomyelitis , cerebral palsy , peripheral neuropathy , Parkinson's disease , ALS , botulism , spina bifida , multiple sclerosis , and Guillain–Barré syndrome . Temporary paralysis occurs during REM sleep , and dysregulation of this system can lead to episodes of waking paralysis . ... It can be associated with: Guillain–Barré syndrome (another name for this condition is Landry's ascending paralysis ) Tick paralysis [13] Ascending paralysis contrasts with descending paralysis , which occurs in conditions such as botulism .
She and her similarly affected sister had normal hearing. Like patients with Pendred syndrome (274600), she discharged 50% of the thyroidal iodide after perchlorate. ... Thyroid dyshormonogenesis characterized by such a discharge was originally categorized here as type 2, with type 2A representing thyroid peroxidase (TPO) deficiency and 2B representing Pendred syndrome (274600). Later molecular studies showed IODs to be related to diverse molecular mechanisms, including mutations in DUOX2 (606759) and DUOXA2 (612772) (Cavarzere et al., 2008).
Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males. ... Suggestive Findings Squalene synthase deficiency should be suspected in individuals with clinical manifestations similar to Smith-Lemli-Optiz syndrome and the following clinical, laboratory, and brain MRI findings. ... Clinical Characteristics Clinical Description Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder, structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay, dry skin with photosensitivity, and genital malformations. ... Of these, four overlap clinically with squalene synthase deficiency (SQSD): lanosterol synthase deficiency, lathosterolosis, Smith-Lemli-Opitz syndrome, and desmosterolosis (see Table 3). ... Cholesterol Biosynthesis Disordersof Interest in the Differential Diagnosis of Squalene Synthase Deficiency View in own window Gene Differential Diagnosis Disorder MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/SQSD Distinguishing from SQSD DHCR24 Desmosterolosis (OMIM 602398) AR Facial dysmorphism Congenital heart defects Microcephaly DD & ID Structural brain malformations ↑ desmosterol Normal urine organic acids DHCR7 Smith-Lemli-Opitz syndrome AR 2-3 toe syndactyly DD & ID Facial dysmorphism Genital abnormalities Structural brain malformations Congenital heart defects Dry skin / photosensitivity Autism Low-normal plasma TC levels ↑ 7-dehydrocholesterol Normal urine organic acids LSS Lanosterol synthase deficiency 1 AR Seizures DD & ID Structural brain malformations Congenital cataracts Hypotrichosis simplex Normal urine organic acids SC5D Lathosterolosis (OMIM 607330) AR Microcephaly DD & ID Structural brain malformations Genital abnormalities Cataracts Normal urine organic acids AR = autosomal recessive; DD = developmental delay; GC-MS = gas chromatography-mass spectrometry; ID = intellectual disability; MOI = mode of inheritance; NMRS = nuclear magnetic resonance spectroscopy; SQSD = squalene synthase deficiency; TC = total cholesterol 1.
A number sign (#) is used with this entry because of evidence that squalene synthase deficiency is cause by homozygous or compound heterozygous mutations in the FDFT1 gene (184420) on chromosome 8p23. Description Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families. Clinical Features Coman et al. (2018) reported 3 patients from 2 families with squalene synthase deficiency. The sibs from family 1 were the products of a nonconsanguineous union of European parents and had very similar features and course.
., LAMA2 -related muscular dystrophies) and structural abnormalities in others (e.g., Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy [FCMD]). ... It can usually be diagnosed by demonstrating pathogenic variants in SMN 1 or SMN2 . Forms of Ehlers-Danlos syndrome, classic type or Marfan syndrome. Neither of these disorders is typically associated with significant muscle weakness or an abnormal muscle biopsy, but they may be confused with Ullrich CMD because of joint laxity. Rigid spine syndromes. A proportion of rigid spine syndromes are caused by pathogenic variants in SELENON ( SEPN1 ) (OMIM 606210), which may overlap with Ullrich CMD later as the phenotype develops.
Loss of smell has also been found to be more predictive of COVID-19 than all other symptoms, including fever, cough or fatigue, based on a survey of 2 million participants in the UK and US. [16] Google searches for "smell", "loss of smell", "anosmia", and other similar terms increased since the early months of the pandemic, and strongly correlated with increases in daily cases and deaths. [17] Research into the mechanisms underlying these symptoms are currently ongoing. [18] Many countries list anosmia as an official COVID-19 symptom, and some have developed "smell tests" as potential screening tools. [19] [20] In 2020, the Global Consortium for Chemosensory Research, a collaborative research organization of international smell and taste researchers, formed to investigate loss of smell and related chemosensory symptoms. [21] List of causes [ edit ] Upper respiratory tract infection (such as sinusitis , the common cold ) [22] COVID-19 [23] [24] Nasal polyps [25] Idiopathic hypogonadotropic hypogonadism Hypothyroidism Head trauma, damage to the ethmoid bone [26] Dementia with Lewy bodies Tumors of the frontal lobe Antibiotics Fibromyalgia Multiple sclerosis Hypoglycaemia Diabetes Asthma or allergy Hayfever Chronic obstructive pulmonary disease (COPD) Long term alcoholism Cushing's syndrome Exposure to a chemical that burns the inside of the nose Stroke Epilepsy Radiation therapy to the head and neck Liver or kidney disease Parkinson's disease [27] Alzheimer's disease [28] Toxins (especially acrylates , methacrylates [29] and cadmium [30] [31] ) Old age [32] Kallmann syndrome Primary ciliary dyskinesia Post-perfusion syndrome Laryngectomy with permanent tracheostomy Esthesioneuroblastoma is an exceedingly rare cancerous tumor that originates in or near the olfactory nerve . Symptoms are anosmia (loss of sense of smell) often accompanied by chronic sinusitis . [33] Intranasal drug use Samter's triad also known as AERD (aspirin exacerbated respiratory disease) Foster Kennedy syndrome Cadmium poisoning Smoking Neurotropic virus [34] Schizophrenia [35] Pernicious anemia Zinc deficiency Bell's Palsy or nerve paralysis and damage Idiopathic intracranial hypertension Suprasellar meningioma Refsum's disease Adrenergic agonists or withdrawal from alpha blockers (vasoconstriction) Sarcoidosis [36] Zinc-based intranasal cold products, including remedies labelled as "homeopathic" [37] Chronic atrophic rhinitis Paget's disease of bone [38] Cerebral aneurysm [39] Granulomatosis with polyangiitis Primary amoebic meningoencephalitis Myasthenia gravis [40] Snakebite [41] Idiopathic anosmia (cause cannot be determined) [3] Diagnosis [ edit ] Anosmia can be diagnosed by doctors by using acetylcysteine tests. ... "Ciliopathy with special emphasis on kartageners syndrome" . International Journal of Health Sciences . 3 (1): 65–9.
Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns. Epidemiology The incidence has been estimated at 1/800 to 1/1 000 live births. Clinical description NAIT has been considered to be the platelet counterpart of Rh Haemolytic Disease of the Newborn (RHD). Unlike RHD, NAIT can occur during a first pregnancy. The spectrum of the disease may range from sub-clinical moderate thrombocytopaenia to life-threatening bleeding in the neonatal period. Mildly affected infants may be asymptomatic. In those with severe thrombocytopaenia, the most common presentations are petechiae, purpura or cephalohaematoma at birth, associated with a major risk of intracranial haemorrhage (up to 20% of reported cases), which leads to death or neurological sequelae.
Paraphilic infantilism , also known as autonepiophilia, [1] psychosexual infantilism [2] and adult baby syndrome , [3] is a sexual fetish that involves role-playing a regression to an infant -like state. [4] [5] Behaviors may include drinking from a bottle or wearing diapers ( diaper fetishism ). [3] [6] Individuals may engage in gentle and nurturing experiences [7] (an adult who engages only in infantile play is known as an adult baby) [8] or be attracted to masochistic , coercive, punishing or humiliating experiences. [7] Diaper fetishism involves "diaper lovers" wearing diapers for sexual or erotic reasons but may not involve infant-like behavior. [9] Individuals who experience both of these things are referred to as adult baby/diaper lovers (AB/DL). [10] [11] When wearing diapers, infantilists may urinate and/or defecate in them. [5] There is no recognized etiology for infantilism and there is little research done on the subject. ... ISBN 978-0-679-76956-9 . ^ a b c d e f Pate, JE; Gabbard, GO (2003). "Adult baby syndrome" . The American Journal of Psychiatry . 160 (11): 1932–6. doi : 10.1176/appi.ajp.160.11.1932 . ... Retrieved 2006-03-07 . ^ a b Kise, K.; Nguyen, M. (2011). "Adult Baby Syndrome and Gender Identity Disorder". ... PMID 8481752 . ^ Croarkin, Paul; Nam, Theodore; Waldrep, Douglas (2004). "Comment on Adult Baby Syndrome (letter to the editor)". American Journal of Psychiatry . 161 (11): 2141. doi : 10.1176/appi.ajp.161.11.2141-a . PMID 15514436 . ^ Evcimen, Harun; Gratz, Silvia (2006). "Adult Baby Syndrome (letter to the editor)". Archives of Sexual Behavior . 35 (2): 115–6. doi : 10.1007/s10508-005-9002-6 .
Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner.
A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood. Epidemiology Exact prevalence and incidence data for hypophosphatasia (HPP) are not available. In North and West Europe, the birth prevalence of severe forms of the disease (perinatal lethal and infantile forms) has been estimated to be 1/300 000. Because of possible dominant autosomal inheritance, moderate forms of HPP are expected to be more frequent and are estimated to have a prevalence of 1/6300. Clinical description Six different clinical forms of HPP have been described, although there is a continuum of severity.
A number sign (#) is used with this entry because childhood hypophosphatasia can be caused by homozygous, compound heterozygous, or heterozygous mutation in the ALPL gene (171760) on chromosome 1p36. Description Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal (see 241500), infantile (241500), childhood, and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 241500). All of these forms are allelic. Clinical Features Hu et al. (2000) described a 4-generation Texas family segregating autosomal dominant hypophosphatasia in both children and adults.
Cole-Carpenter syndrome (OMIM 112240, 616294) is characterized by bone deformities, multiple fractures, proptosis, shallow orbits, orbital craniosynostosis, frontal bossing, and hydrocephalus. ... Familial periodontal disease can be inherited in an autosomal dominant manner (OMIM 170650) or as part of a connective tissue disorder (e.g., Ehlers-Danlos syndrome, vascular type or Ehlers-Danlos syndrome, periodontal type VIII [OMIM 130080]) or associated with neutropenia (e.g., ELANE -related neutropenia). Ehlers-Danlos syndrome type VIII may present with root-intact tooth loss, the distinction being the low serum alkaline phosphatase of odontohypophosphatasia. Rarer autosomal recessive disorders associated with premature tooth loss and periodontal disease include Papillon-Lefevre syndrome (OMIM 245000) and Haim-Munk syndrome (HMS) (OMIM 245010), caused by pathogenic variants in CTSC , the gene encoding dipeptidyl peptidase 1. The periodontal disease is usually earlier in onset and more severe than that seen with odontohypophosphatasia. Both Papillon-Lefevre syndrome and HMS are usually associated with palmar keratosis, further distinguishing them from odontohypophosphatasia.
Field spent large parts of the late 1960s and early 1970s in New Guinea investigating the disease, [34] connecting it to scrapie and multiple sclerosis . [35] He noted similarities in the diseases interactions with glial cells , including the critical observation that the infectious process may depend on structural rearrangement of the host's molecules. [36] This was an early observation of what was to later become the prion hypothesis . [37] In literature and popular culture [ edit ] The Czech immunologist-poet Miroslav Holub wrote 'Kuru, or the Smiling Death Syndrome' about the disease. [38] In the post-apocalyptic film The Book of Eli , the protagonist notes shaky hands as a recognizable symptom of cannibalistic practices. [ citation needed ] In the survival horror game Dead Island , the virus that produces zombies is suggested to be derived from Kuru. [ citation needed ] In the survival horror game DayZ , the virus will always be contracted if the player consumes human flesh or human fat. [39] In a season 1 Scrubs episode “ My Balancing Act ” Dr John ‘JD’ Dorian diagnoses a patient with Kuru and is mocked by both the patient and Dr Cox. ... "Epilepsy and guria: The shaking syndromes of New Guinea". Social Science & Medicine . 3 (1): 39–48. doi : 10.1016/0037-7856(69)90037-7 . ... PMID 30866511 . ^ Zigas, Vincent; Gajdusek, Daniel (23 November 1957). "Kuru: Clinical study of a new syndrome resembling paralysis agitans of the eastern highlands of Australian New Guinea". ... RayPeat.com . ^ Holub, Miroslav, Vanishing Lung Syndrome, trans. David Young and Dana Habova (Oberlin College Press, 1990). ... External links [ edit ] Classification D ICD - 10 : A81.8 ICD - 9-CM : 046.0 OMIM : 245300 MeSH : D007729 DiseasesDB : 31861 External resources MedlinePlus : 001379 v t e Prion diseases and transmissible spongiform encephalopathy Prion diseases in humans inherited/ PRNP : fCJD Gerstmann–Sträussler–Scheinker syndrome Fatal familial insomnia sporadic: sCJD Sporadic fatal insomnia Variably protease-sensitive prionopathy acquired/ transmissible: iCJD vCJD Kuru Prion diseases in other animals Bovine spongiform encephalopathy Camel spongiform encephalopathy Scrapie Chronic wasting disease Transmissible mink encephalopathy Feline spongiform encephalopathy Exotic ungulate encephalopathy
A number sign (#) is used with this entry because of evidence that kuru is an acquired form of prion disease, associated with variation in the PRNP gene (176640). Description Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008). Clinical Features Collinge et al. (2006) identified 11 patients with kuru in Papua New Guinea who were all born before the cessation of cannibalism.
A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades.