Search results for “cerebral atrophy”

14 results found
Article

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Article

Nasu-Hakola disease

Nasu-Hakola disease, also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is a rare inherited neuropsychiatric disorder which in addition to cognitive impairment also demonstrates bone cysts.   Epidemiology Although the exact incidence is not known, the c...
Article

Syphilis

Syphilis is the result of infection with the gram-negative spirochete Treponema pallidum, subspecies pallidum. It results in a heterogeneous spectrum of disease with many systems that can potentially be involved, which are discussed separately.  Epidemiology Despite the discovery of penicillin...
Article

Hyperostosis frontalis interna

Hyperostosis frontalis interna is characterized by benign overgrowth of the inner table of the frontal bone. The etiology is unknown. The condition is generally an incidental finding of no clinical significance. It is typically bilateral and symmetrical and may extend to involve the parietal bon...
Article

Sickle cell disease

Sickle cell disease (SCD) (historically also known as drepanocytosis) is a hereditary (autosomal recessive) condition resulting in the formation of abnormal hemoglobin (a hemoglobinopathy), which manifests as multisystem ischemia and infarction, as well as hemolytic anemia.  Hemoglobin SC (HbSC...
Article

Anorexia nervosa

Anorexia nervosa is a psychiatric disorder characterized by distorted self-perception of body weight leading to starvation, obsession with remaining underweight, and an excessive fear of gaining weight. One in five patients with anorexia dies due to complications of the disease. Epidemiology T...
Article

Menkes disease

Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.  Epidemiology Menk...
Article

Fucosidosis

Fucosidosis is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products. Epidemiology It is considered very rare, with approximately only 100 cases ...
Article

Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. Clinical presentation The clinical presentation is highly variable with many potential neurological and other/systemic clinical features 6. ...
Case

Proteus syndrome

  Diagnosis certain
Dalia Ibrahim
Published 26 Jan 2023
87% complete
Photo MRI CT
Case

Cerebrotendinous xanthomatosis

  Diagnosis probable
Aalaa Nassar
Published 05 Apr 2023
71% complete
MRI
Article

Scoliosis

Scoliosis (plural: scolioses) is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities. Terminology Early onset sco...
Case

Linear scleroderma

  Diagnosis almost certain
Dalia Ibrahim
Published 20 Oct 2022
81% complete
Photo Annotated image MRI CT
Article

Piriformis syndrome

Piriformis syndrome is a rare entrapment neuropathy resulting in radicular pain radiating into the buttock and hamstrings. The entity is controversial as are the putative causes. Clinical presentation Sciatic pain reproduced on passive internal rotation/adduction of a flexed hip is considered ...

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