Mindblown: a blog about philosophy.
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Septo-optic dysplasia
Septo-optic dysplasia (SOD) is a birth defect characterized by a malformed optic disk and nerve, pituitary deficiencies, and often the absence of the septum pellucidum, which is a layer of nerve tissue that separates the two lateral ventricles of the brain. Without the septum pellucidum, communication between the ventricles of the midbrain is impaired. A…
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Partial seizures
Partial seizures, like all other seizures, result from excessive synchronous discharge of neuronal activity. This activity denotes abnormal cortical functioning. Seizures are fairly common—in fact, 1% of the population have chronic, recurrent episodes, or what is referred to as epilepsy. Individuals who are predisposed to epilepsy experience seizures when their basal level of neuronal excitability…
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Generalized tonic-clonic seizures
Generalized tonic-clonic seizures are one of the most common childhood neurological disorders. The seizure involves synchronous bilateral electrical epileptical discharges; therefore, the first signs reflect involvement of both hemispheres of the brain. The seizure, however, can begin in a focal area of the brain (or one hemisphere) as a partial seizure and spread to other…
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Atonic seizures
Atonic seizures are also referred to as drop attacks and epileptic fall. Hughlings Jackson first described “sudden epileptic falls” in 1886. Unlike most epileptic seizures that involve either positive motor behavior (e.g., tonic, clonic, and myoclonic) or the absence of motor behavior (e.g., absence seizures), atonic seizures involve negative motor phenomena. The primary characteristic of…
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Absence seizure
An absence seizure, formerly known as a petit mal, is defined as a sudden, involuntary, transient alteration in cerebral function due to abnormal discharge of neurons in the central nervous system. Absence seizures fall in the category of generalized seizures, of which there are two types: primary and secondary. Primary generalized seizures are characterized by…
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Seitelberger disease
Seitelberger disease is an inherited central nervous system condition that is characterized by progressive degeneration of muscular and coordination ability. The disease is inherited as an autosomal recessive trait. The symptoms and physical characteristics of Seitelberger disease occur due to swelling and degeneration of nerve endings (dystrophic axonal swellings) in areas of the brain and…
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Schwartz-jampel syndrome
Schwartz-Jampel syndrome (SJS) is an autosomal recessive condition. It is characterized by muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. This disorder is caused by a genetic abnormality linked to one or more regions of the first chromo¬ some. This disorder is known by several other names: myotonic myopathy, dwarfism, chondrodystrophy,…
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Schwachman syndrome
Schwachman syndrome (SS) is a rare, heritable disorder consisting of pancreatic insufficiency (inadequate amounts of pancreatic digestive enzymes), neutropenia (decreased number of neutrophils, a type of white blood cell), defects in neutrophil function, anomalous bone formation, postnatal growth retardation with poor weight gain (failure to thrive), and short stature. Patients are usually normal at birth…
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Schmidt syndrome
Schmidt syndrome is an endocrine disorder that is diagnosed when there are several different malfunctions in the endocrine glands, which are responsible for the production of hormones. Hypothyroidism and Addison’s disease are the main characteristics of Schmidt syndrome, although problems with the functioning of other endocrine glands such as the gonads, parathyroids, and pancreas; insulindependant…
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Schinzel-giedion syndrome
Schinzel-Giedion syndrome is thought to be inherited as an autosomal recessive trait. It is a terminal form of infantile epilepsy, and infants with Schinzel-Giedion syndrome rarely live beyond 2 years of age. It is characterized by midface retraction and anomalies of the skeleton, kidney, hair, and brain.
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