Neurocutaneous Disorders
The skin, teeth, hair, nails, and brain are derived embryologically from ectoderm. Abnormalities of these surface structures may indicate abnormal brain development NEUROFIBROMATOSIS . TUBEROUS SCLEROSIS . STURGE-WEBER SYNDROMENEUROFIBROMATOSIS
TUBEROUS SCLEROSISTuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas in many organs, especially the brain, eye, skin, kidneys, and heart Clinical Manifestations page 870 page 871 The classic clinical features are facial angiofibromas (formerly referred to as adenoma sebaceum), mental retardation, and severe epilepsy. Less than 50% of patients with tuberous sclerosis exhibit all three features. Other major signs are ungual fibromas, retinal hamartomas, hypopigmented macules, shagreen patches, renal angiomyolipoma, cardiac rhabdomyoma, brain tubers, and brain subependymal nodules and astrocytomas. Tuberous sclerosis is one of the most common causes of infantile spasms. These children often develop intractable epilepsy, with myoclonic, atonic, partial, and grand mal seizures; mental retardation; autism; and hyperactivity
STURGE-WEBER SYNDROME
is characterized by angiomas of the leptomeninges overlying the cerebral cortex in association with an ipsilateral facial port-wine nevus that, at the least, covers part of the forehead and upper eyelid. The nevus may have a much more extensive and even bilateral distribution. This nevus flammeus is an ectasia of superficial venules, not a hemangioma, because it has no endothelial proliferation. Ocular defects of Sturge-Weber syndrome include glaucoma and hemangiomas of the choroid, conjunctiva, and episclera. Glaucoma is present in 30% to 50% of patients and may be progressive The most common associated neurologic abnormality is seizures?. In some children with Sturge-Weber syndrome, progressive ischemia of the underlying brain develops, resulting in hemiparesis, hemianopia, intractable focal seizures, and dementia. Calcium is detectable in the gyri of the brain underlying the angioma, and, as the intervening sulci are spared, the radiologic picture of "tram track" or "railroad track" calcifications is seen in about 60% of cases. Many children with Sturge-Weber syndrome are intellectually normal, and seizures are well controlled with standard anticonvulsantsDiseases of the spinal cord
Werdnig-hoffmann disease(SMD)Progressive degeneration of AHC.3 types(early type WHD) , (late type Kugelberg-Welander syndrome) , intermediate type).Autosomal recessive.WHD:start as progressive proximal weakness , ↓spontaneous movement , floppiness , atrophy of muscles , loss of head control , drooling , ↓ facial expression ,loss of reflex , eyes remain bright open , engaging , tongue fasciculation(sleep) normal mentality , language , sensationCause of death: respiratory infection , respiratory failure.Diagnosis:CPK↑, EMG.TREATMENT :CONSERVATIVE
Idiopathic peripheral neuropathy. Associated with GIT (campylobacter jejuni) and URTI infection. Symptoms: Numbness¶sthesia in the hand and feet then heaveness then weakness followed by inability to walk in a symmetrical fashion beginning in the legs and ascending to involve the arms,trunk,throat and the face either in rapid progression over hrs , days, wks Sign: A reflexia , hypotonia ,minor sensory loss ,meningial irritation ,bulber&resoiratory insufficiency, normal bladder&bowel function, autonomic dysfunctions.
Miller Fisher syndrome:A cranial n. variant of GBS manifested by ataxia, partial othalmoplegia & areflexia.D.D: porphyria , tick paralysis.Diagnosis: normal CSF exam. Apart from leukocytosis in the 1st week the it show ↑ protein level without pleocytosis.EMG and N conduction study are normal at beginning then show also delay.Prognosis: 75%→complete recovery , 20%→ mild residual weakness , 5% is the mortality rate.Treatment: conservative
Acquired myasthenia gravis
Classic M.G: begin in the teenage yrs. With acute onset of ptosis , diplopia , opthalmoplegia&weakness of extremities,neck&jaw , the symptoms less prominent on awakening and worsen in the end of the day or with exercise. In some patients the disease never advance more than ophthalmoplegia. Diagnosis: by I.V edrophonium chloride , antiacetylcholine receptor AB level . TREATMENT: acetylcholine esterase inhibitor(pyridostigmine) , thymectomy , prednisolone , plasmapharesis , immunosuppressive agents.Muscle disease
Duchenne dystrophy:Its due to absence of protein called (dystrophine) .Sex –linked recessive.Disease start at age of 3 yrs.Antecedent history of mild slowness in attaining motor milestones like walking or climbing stairs.O/E calf hypertrophy , moderate proximal legs weakness , hyperlordosis , waddling gait.Gower sign: the child arise from ground using arms to climb up his legs and bodyWeakness progress to involve the arm and the child become confined to wheelchair at 12 yrs.Death due to pneumonia or CHF.GOWERS SIGN
DIAGNOSIS:Serum level of CPK is ↑.Muscle biopsy show muscle fiber degeneration®eneration.Treatment: supportive +physiotherapy+wheelchair.Limb – girdle dystrophy:A.RProximal legs&arms weakness.Same clinical features of duchenne but seen in older child or teenageJuvenile dermatomyositis
Chronic idiopathic inflammation of muscleProgressive m. weaknessErythema around the eyes(heliotrope), knuckle(Gottron rash)& on the extensor surface of the knees , elbows&toesOther organ like intestine may be involved.Pathogenesis involved complement mediated immune reaction against vascular endothelium.Diagnosis: serum CPK level is↑ , EMG and MRI of the muscle , muscle biopsy.Treatment :2 yrs corticosteroid cures the disease.Cerebral Palsy
Cerebral palsy (CP) is a diagnostic term used to describe a group of motor syndromes resulting from disorders of early brain development. CP is caused by a broad group of developmental, genetic, metabolic, ischemic, infectious.About 10% are postnatal in origin. Preterm infants are especially vulnerable to brain damage from periventricular leucomalacia (PVL) secondary to ischaemia and/or severe intraventricular haemorrhage. The rise in survival of extremely preterm infants has been accompanied by an increase in survivors with cerebral palsy, although the number of such children is relatively small. Other postnatal causes are meningitis/encephalitis/encephalopathy, head trauma from accidental or non-accidental injury, symptomatic hypoglycaemia, hydrocephalus and hyperbilirubinaemia.
CLINICAL MANIFESTATIONS
Many children who develop cerebral palsy will have been identified as being at risk in the neonatal period. Early features of cerebral palsy are: abnormal limb tone and limb and/or trunk posture in infancy with delayed motor milestones may be accompanied by slowing of head growth feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting abnormal gait once walking is achieved asymmetric hand function before 12 months of age.TREATMENT??
HEREDITARY AND METABOLIC DEGENERATIVE DISEASESDegenerative diseases may affect gray matter (neuronal degenerative disorders), white matter (leukodystrophies), or specific, focal regions of the brain. Many white and gray matter degenerative illnesses result from enzymatic disorders within subcellular organelles, including lysosomes, mitochondria, and peroxisomes
Gray matter degeneration (neuronal degeneration) is characterized early by dementia and seizures. This group of gray matter disorders, which cause slowly progressive loss of neuronal function, is separated into disorders with and disorders without accompanying visceromegaly (hepatosplenomegaly). Most are autosomal recessive traits except for Hunter syndrome (sex-linked recessive), Rett syndrome (sex-linked dominant), and the mitochondrial encephalopathies (nuclear or mitochondrial DNA defects).
Degenerative Diseases of the White Matter (Leukodystrophies) The prominent signs of diseases affecting primarily white matter are spasticity, ataxia, optic atrophy, and peripheral neuropathy. Seizures and dementia are late manifestations. Life expectancy ranges from months to a few years.