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MAJOR CATEGORIES OF NEUROLOGIC DISEASE
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nares, wide-set eyes, epicanthal folds, ptosis, small chin, low-set ears, enlarged alveolar maxillary ridge, cutaneous syndactyly, hypospadias in boys, short stature, subnormal neonatal activity, normal amino acids and serum immunoglobulins Older survivors are bereft of language and paraparetic, with increased re exes and Babinski signs The hips are usually dislocated The karyotype is normal The brain is small but has not been fully examined Two of our patients are sibling girls Rubinstein-Taybi syndrome Microcephaly but no craniostenosis, downward palpebral slant, heavy eyebrows, beaked nose with nasal septum extending below alae nasi, mild retrognathia, grimacing smile, strabismus, cataracts, obstruction of nasolacrimal canals, broad thumbs and toes, clinodactyly, overlapping digits, excessive hair growth, hypotonia, lax ligaments, stiff gait, seizures, hyperactive tendon re exes, absence of corpus callosum, mental retardation, and short stature This dominantly inherited disease is due to disruption of so-called CREB-binding protein, a nuclear protein necessary for gene expression that is modulated by cyclic AMP Pierre Robin syndrome Possible autosomal recessive pattern of inheritance with microcephaly but no craniostenosis, small and symmetrically receded chin, glossoptosis (tongue falls back into pharynx), cleft palate, at bridge of nose, low-set ears, mental de ciency, and congenital heart disease in half the cases Camptomelia (bent bones), diastrophic dwar sm (short limbs) common DeLange syndrome (Cornelia DeLange syndrome) The phenotype shows some degree of variability, but the essential diagnostic features are intrauterine growth retardation and stature falling below the third percentile at all ages, microbrachycephaly, generalized hirsutism and eyebrows that meet across the midline (synophrys), anteverted nostrils, long upper lip, and skeletal abnormalities ( exion of elbows, webbing of second and third toes, clinodactyly of fth ngers, transverse palmar crease) All are moderately or, more often, severely retarded mentally, which, with craniofacial abnormalities, is diagnostic It has been said, and it has been our experience, that many of these patients are prone to have a bad disposition, manifest by biting and spitting There are no chromosomal abnormalities A polygenic inheritance has been postulated, but most cases are sporadic Smith-Magenis syndrome This is due to deletions on chromosome 17, in which there is learning disability, severe behavioral problems (violence and self-injury), hyperactivity, deafness, and ocular abnormalities
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Hemangiomas of the skin are without doubt the most frequent cutaneous abnormalities present at birth, and usually they are entirely innocent Many recede in the rst months of life On the other hand, an extensive vascular nevus located in the territory of the trigeminal nerve and sometimes in other parts of the body as well causes permanent dis gurement and usually portends an associated cerebral lesion Other neurocutaneous diseases are summarized below A more complete review of these diseases will be found in the article by Short and Adams in Fitzpatrick s Dermatology and the monograph edited by Gomez, listed in the References The related category of phakomatoses is discussed on page 865 The importance of recognizing the cutaneous abnormalities relates to the fact that the nervous system is usually abnormal, and often the skin lesion appears before the neurologic symptoms are detectable Thus the skin lesion becomes a predictor of potential neurologic involvement Basal-cell nevus syndrome This condition is transmitted as an autosomal dominant trait and is characterized by super cial pits in the palms and soles; multiple solid or cystic tumors over the head, face, and neck appearing in infancy or early childhood; mental retardation in some cases; frontoparietal bossing; hypertelorism; and kyphoscoliosis 2 Congenital ichthyosis, hypogonadism, and mental retardation This disorder is inherited as a sex-linked recessive trait Aside from the characteristic triad of anomalies, there are no special features 3 Xeroderma pigmentosum The genetic pattern of inheritance is autosomal recessive Skin lesions appear in infancy, taking the form of erythema, blistering, scaling, scarring, and pigmentation on exposure to sunlight; old lesions are telangiectatic and parchment-like, covered with ne scales; skin cancer may develop later; loss of eyelashes, dry bulbar conjunctivae; microcephaly, hypogonadism, and mental retardation (50 percent of cases) Kanda and associates classify this disease with the DeSanctis-Cacchione syndrome of xerodermic idiocy and believe the basic mechanism to be a faulty repair of DNA These authors described two young adults with low intelligence, evidence of spinal cord degeneration, and peripheral neuropathy The peripheral nerve lesions resembled those of amyloidosis, Riley-Day syndrome, and Fabry disease in that there was a predominant loss of small bers Other variants are described 4 Sjogren-Larssen syndrome Autosomal recessive with con genital ichthyosiform erythroderma, normal or thin scalp hair, sometimes defective dental enamel, pigmentary degeneration of retinae, spastic legs, and mental retardation 5 Poikiloderma congenitale (Rothmund-Thompson syndrome) Autosomal recessive heredity; appearance of skin changes from the third to sixth months of life; diffuse pink coloration of cheeks spreading to ears and buttocks, later replaced by macular and reticular pattern of skin atrophy mixed with striae, telangiectasia, and pigmentation; sparse hair in half of the cases; cataracts; small genitalia; abnormal hands and feet; short stature; and mental retardation 6 Linear sebaceous nevus syndrome Genetics uncertain Here there is a linear nevus of one side of face and trunk, lipodermoids on bulbar conjunctivae, vascularization of corneas, mental retardation, focal seizures, and spike and slow waves in the EEG 1
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