Spongy Degeneration of the Brain
Spongy degeneration of the brain means the brain’s white matter (the wiring that carries messages) develops many tiny fluid-filled holes and becomes soft and swollen. In Canavan disease this happens ...
Rx Neurology (A – Z)
Spongiform Leucodystrophy
Spongiform leucodystrophy is a rare brain disease. It mainly affects babies and young children. “Leuco-” means white, and “dystrophy” means damage or poor growth. In this disease, the white matter of ...
Canavan–Van Bogaert–Bertrand Disease (Canavan Disease)
Canavan disease is a rare, inherited brain disorder in which the white matter (the “insulation” around nerve fibers called myelin) is damaged and does not develop normally. Babies often seem normal ...
Aminoacylase-2 Deficiency
Aminoacylase-2 deficiency—the condition better known today as Canavan disease (aspartoacylase deficiency) is a rare, inherited brain disease. Doctors now call it Canavan disease. It happens when the ...
C11ORF73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy is a rare genetic brain white-matter disease. “Hypomyelinating” means the brain does not lay down normal myelin (the fatty ...
Trigonocephaly C Syndrome
Trigonocephaly C syndrome (often shortened to C syndrome or Opitz trigonocephaly syndrome / OTCS) is an ultra-rare genetic condition. The key sign is trigonocephaly—a triangular-shaped forehead from ...
Opitz Trigonocephaly C Syndrome (C Syndrome)
Opitz trigonocephaly C syndrome is an ultra-rare genetic condition. Babies are born with a triangular-shaped forehead because the metopic suture (the seam in the middle of the forehead) closes too ...
Opitz C Trigonocephaly
Opitz C trigonocephaly, also called C syndrome or Opitz trigonocephaly syndrome, is a very rare genetic condition. The front seam of the skull (the metopic suture) closes too early. This makes the ...
Birk-Barel Syndrome
Birk-Barel syndrome is a very rare, inherited brain-development disorder caused by changes in a single gene called KCNK9. This gene makes a potassium “leak” channel called TASK-3 that helps brain ...
Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD)
Biotin-thiamine-responsive basal ganglia disease is a rare, inherited brain disorder. It damages deep movement-control centers in the brain called the basal ganglia. The disease happens when both ...
Biotin-Responsive Basal Ganglia Disease (BRBGD)
Biotin-responsive basal ganglia disease is a rare, inherited brain energy problem. It happens when brain cells cannot move enough thiamine (vitamin B1) into the cells where it is needed for making ...
Primary Familial Brain Calcification (PFBC)
Primary familial brain calcification (PFBC) is a rare, inherited brain condition. In PFBC, tiny hard deposits made of calcium form in certain deep areas of the brain. These areas often include the ...
Cerebrovascular Ferrocalcinosis
Cerebrovascular ferrocalcinosis means there is abnormal build-up of minerals—mainly calcium and often iron-related deposits—within the walls of small blood vessels and the tissues around them inside ...
Bilateral Striopallidodentate Calcinosis (BSPDC)
Bilateral striopallidodentate calcinosis (BSPDC) is a rare brain condition where calcium-rich deposits build up on both sides of deep brain areas that control movement and thinking—especially the ...
Bilateral Polymicrogyria
Bilateral polymicrogyria is a problem in how the brain’s surface (the cortex) forms before birth. In PMG, the brain makes too many very small folds (gyri), and the normal layers of brain cells are ...
Bilateral Parasagittal Parieto-Occipital Polymicrogyria (BPPo-PMG)
Bilateral parasagittal parieto-occipital polymicrogyria (BPPo-PMG) is a rare brain-development problem where the cortex forms too many tiny folds (polymicrogyria) along the midline (parasagittal) ...
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