Articles
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More than 200 results
Article
Stiff person syndrome
Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease.
Terminology
Use of "stiff man syndrome" is strongly discouraged given that not only does the condition also affect females, but it is actually more common among females 6.
Epidemiology
Onset ...
Article
Johanson-Blizzard syndrome
Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with wide variability in its manifestations. It is thought to have an autosomal recessive inheritance.
Clinical presentation
There is wide variability in the clinical presentation, but common features are:
low birth weight
hypo...
Article
Stauffer syndrome
Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement of the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.
History and etymology
It is named after Maurice ...
Article
Middle clunal nerve entrapment
Middle clunal nerve entrapment is a potential cause of low back pain. The middle clunal nerves travel beneath the long posterior sacroiliac ligament and this is a potential space for nerve entrapment 1.
Clinical presentation
Low back pain and leg pain can be caused by entrapment of these nerve...
Article
Broca aphasia
Broca aphasia, also known as expressive aphasia or motor aphasia, is a type of non-fluent aphasia thought to be caused by injury (e.g. stroke) to Broca's area and the surrounding frontal fields 1,2, although there is controversy regarding the exact localization that leads to Broca aphasia 3.
Cl...
Article
Carney-Stratakis syndrome
Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastrointestinal stromal tumor (GIST).
Terminology
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney co...
Article
Hereditary multiple exostoses
Hereditary multiple exostoses/osteochondromas, also known as diaphyseal aclasis, osteochondromatosis, or simply multiple osteochondromas, is an autosomal dominant condition, characterized by the development of multiple osteochondromas.
Epidemiology
Hereditary multiple exostoses demonstrate an ...
Article
Neuroferritinopathy
Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19.
Epidemiology
Neuroferritinopathy is a rare disorder first described in 2001 ...
Article
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.
Epidemiology
The estimated incidence is 1 in 100,000-125,000 live births 5.
Clinical...
Article
Frontonasal dysplasia
Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system.
Epidemiology
Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
Article
Weaver syndrome
Weaver syndrome (WS) is a rare congenital disorder.
Clinical spectrum
increased birth weight: fetal macrosomia
early overgrowth
macrocephaly
accelerated osseous maturation: increased bone age
typical facial features
broad forehead
hypertelorism
long philtrum
micrognathia
large ears
h...
Article
Antiphospholipid syndrome
Antiphospholipid syndrome (APLS) is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients with circulating antiphospholipid antibodies.
Clinical presentation
Antiphospholipid syndrome is characterized by ve...
Article
Hepatorenal syndrome
Hepatorenal syndrome refers to a form of acute kidney injury (AKI) caused by changes in renal blood flow regulation due to liver pathology 1. Although the syndrome occurs mainly in cirrhotic livers it has been reported in patients with acute fulminant liver failure as well 1.
Epidemiology
The ...
Article
Primary hyperaldosteronism
Primary hyperaldosteronism is a condition of excess aldosterone production and occurs secondary to bilateral adrenal hyperplasia, adrenal cortical adenoma, or rarely, adrenal carcinoma. When primary hyperaldosteronism is due to aldosterone-producing adenoma it is called Conn syndrome 2,3,9. Diff...
Article
Sampson syndrome
Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments.
Clinical presentation
The patient may present with non-specific abdominal pain.
Radiographic features
At laparoscopy, they are typi...
Article
Lane-Hamilton syndrome
Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1.
Epidemiology
It is typically seen in children under the age of 15 but can occasionally be seen in adults.
History and etymology
It was originally described by D ...
Article
Goodman syndrome
Goodman syndrome is a type of acrocephalopolysyndactyly (often considered type IV). It is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal re...
Article
Familial multiple cavernous malformation syndrome
The familial multiple cavernous malformation syndrome, or familial cerebral cavernous malformation syndrome, is uncommon, accounting for only a minority of cavernous malformations.
Epidemiology
It has been more frequently reported in patients of Hispanic descent 1.
Diagnosis
The definition o...
Article
Mowat-Wilson syndrome
Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies.
Clinical presentation
Anomalies that may be recognized at birth or in the first year of life include:
CNS
seizures
intellectual disability
distinct facial profile
ocular hypertelorism, broad eyebrows,...
Article
Hemiconvulsion-hemiplegia epilepsy syndrome
Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy.
It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
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