Paed

NEUROLOGY NEURAL TUBE DEFECT: RESULT FROM FAILURE TO CLOSE SPONTANEOUSLY BETWN 3rd TO 4th WK SPINA BIFIDA OCCULTA: COMMON, DISCOVER ACCIDENTALLY, MOSTLY ASYM.MIDLINE DEFECT IN V .BODY @/OUT PROTRUSN OF S.CORD/ MENINGES MENINGOCELE: OUTPOUCHING OF SKIN & MENINGES @/OUT INVOLVEMENT OF S.CORD MYELOMENINGOCELE: MOST SEV FORM OF DYSGRAPHISMINVOLING V.COLUMN LUMBOSACRAL REGION 75% LESION IN LOW SACRAL REGION CAUSES BOWEL & BLADDER INCONT+ANAESTHESIA IN PERINEAL AREA BUT NO IMPAIRMENT OF MOTOR FUNC LESION IN MID LUMBAR REGION SHOWS FLACCID PARALYSIS OF LOWER EXs + POSITIONAL ABN ENCEPHALOCELE: OCCIPITALLY, CERVICALLY RARELY FRONTALLY OUTPOUCHING OF DURA @/ @OUT BRAIN ANENCEPHALY : CRANIAL VAULT & POST OCCIPITAL BONE DEFECTIVE & DERIVATIVE OF NEURAL TUBE EXPOSED PITUITARY GL ↓PLASTIC ABSENCE OF CEREBRAL CORTEX PRENATAL DIAG MATERNAL SERUM AMNIOTIC FLUID USG

↑AFP ↑AFP& ACETYLCHOLINEESTERASE

PREVENTN FA – 2 MNTHS BEFORE CONCEPTN &3 MNTHS OF GESTATN DISORDER OF NEURONAL MIGRATN: LISENCEPHALY/AGYRIA: ABSENCE OF CEREBRAL CONVOLUTNS SCHIZENCEPHALY: +OF UNI/BILAT CLEFT @ IN CEREBRAL HEMISPHERE PORENCEPHALY : + OF CYSTS/CAVITIES @/IN BRAIN Mc cause—AV MALFORMATN HOLOPORENCEPHALY: DEFECTIVE CLEAVAGE OF PROSENCEPHALON/ FOREBRAIN MICROCEPHALY: HEAD CIRCUMFERANCE <3SD MEAN FOR AGE & SEX CAUSES:

1*: (GENETIC): 1. FAMILIAL (AR) 2. AD SYNs —DOWNS,EDWARDS 2*: MALNUTRITN, MENINGITIS, METABOLIC DRUGS RADIATN INF HIE MACROCEPHALY: 1. DUE TO THICK CRANIUM—CHR HEMOLYTIC ANAEMIA OSTEOGENESIS IMPERFECTA RICKETS EPIPHYSEAL DYSPLASIA 2. DUE TO ABN SUB STORE IN BRAIN PARENCHYMA TAY-SACHS MUCOPOLYSACCHAROIDOSIS MAPLE SYRUP URINE DS LEUKODYSTROPHIES • ALEXANDER • CANAVAN • METACHROMATIC 3. DUE TO ↑ BRAIN MASS—CEREBRAL GIGANTISM(SOTTO SYN) NEUROFIBROMATOSIS HYDROCEPHALUS: CIRCULATN OF CSF:

LAT VENTRICLE FORAMEN OF MONRO 3rd VENTRICLE AQUEDUCT OF SYLVIUS 4th VENTRICLE

FORAMEN OF LUSCKA FORAMEN OF MEGENDIE MC CAUSE OF CONG HC: AQUEDUCTAL STENOSIS MC CAUSE IN CHILD/INFANTS: MENINGITIS (INFECTION) ARNOLD CHIARI MALFORMATN: TYPE I –DISPLACEMENT OF CEREBRAL TONSILS IN CERVICAL CANAL TYPE II –DISPLACEMENT OF INF VERMIS, PONS & MEDULLA INTO CERVICAL CANAL. CHR BY PROGRESSIVE HYDROCEPHALUS & MYELOMENINGOCELE DANDY WALKER MALFORMATN: CYSTIC EXPANSN OF 4th VENTRICLE IN POST FOSSA.90% PT HAVE HYDROCEPHALUS CLASSIFICATN OF SEIZURES: I. PARTIAL—SIMPLE COMPLEX

II.

III.

PARTIAL @ 2* GENERALISATN GENERALISED—TONIC CLONIC TONIC CLONIC (GRAND MAL) ABSENCES MYOCLONIC INFANTILE SPASM UNCLASSIFIED

SIMPLE PARTIAL: 1. @ OUT LOSS OF CONSCIOUSNESS 2. JACKSONIAN MARCH—SIMPLE SEIZURE SPREAD FROM 1 AREA OF BODY TO OTHER ACC TO THE REPRESENTATN IN PRECENTRAL GYRUS OF MOTOR CORTEX 3. TODD’S PALSY COMPLEX PARTIAL/PSYCHOMOTOR/TEMPORAL LOBE SEIZURES: 1. CONSCIOUSNESS IMPAIRED 2. BRIEF VISCERAL,OLFACTORY/VISUAL AURA FOLLOWED BY PECULIAR POSTURE TONIC JERK OF FACE &/LIMBS 3. AUTOMATISMS TONIC: ↑ TONE/RIGIDITY CLONIC: RHYMIC MS CONTRACTN & RELAXATN MYOCLONUS: SHOCK LIKE CONTRACTNS ATONIC: chr by flaccidity/ lack of movement during a convulsn ABSENCE SEIZURE (PETIT MAL): CHR BY 1. SUDDEN CESSATN OF MOTOR ACTIVITY @ BLANK FACIAL EXPRESSION 2. UNCOMMON <5 YRS 3. ↑GIRL 4. X AURA/POST ICTAL CONFUSN 5. RARELY PERSIST >30SEC 6. COUNTLESS SEIZURES DAILY 7. ↑PERVENTILATN PRODUCES 8. EEG SHOWS TYPICAL B/L SYNCHRONUS & SYMMETRIC 3Hz/SEC SPIKE 7 WAVE ACTIVITY 9. CLUE-DAY DREAMING & ↓ IN SCHOOLPERFORMANCE RECOGNISED BY TEACHER INFANTILE SPASM: EEG SHOWS HYPSARRHYTHMIA ACTH USED IN Rx LENOX-GASTAUT SYN: ▲INTRACTABLE SEIZURES OF VARIOUS TYPE(>2 ANTIEPILEPTIC REQ TO CONTROL SEIZURE),SLOW SPIKE WAVE EEG ,MR. LANDAN KLEFFNER SYN: LOSS OF LANGUAGE SKILL IN PREVIOUSLY N CHILD.EPILEPTIC FOCI ON BROCA’S AREA, ASS @ SEIZURE DISORDER JUVENILE MYOCLONIC EPILEPSY:

EPILEPSY SYN THIS SYNs ARE DISORDERS WHERE EPILEPSY IS A PREDOMIUNANT FEATURE & THERE IS SUFFICIENT EVIDENCE TO SUGGEST COMMON UNDERLYING MECH CHR BY: • APP IN EARLY ADOLESCENCE • BL MYOCLONIC SINGLE/REPITITIVE JERKS • MOST FREQ IN MORNING AFTER AWAKENING • CONSCIOUSNESS USUALLY PRESERVED • ASS @ GEN TONIC-CLONIC & ABSENCE SEIZURES • FAMILY HISTORY+ • Rx @ VALPROATE FEBRILE SEIZURES: MC CAUSE OF SEIZURE IN EARLY CHILDHOOD AGE DEPENDENT (9 MNTH—5YRS) SIMPLE BENIGN FEBRILE CONVULSN: 1. CONVULSN OCCUR @IN 24 HRS OF ONSET OF FEVER 2. DURATN<10 MIN 3. GENERALISED CONVULSNS 4. AGE SUGGESTIVE 5. FAMILY HISTORY+ 6. NO POST ICTAL NEURODEFICIT R/Fs FOR DEV OF EPILEPSY AS A COMPLICATN OF FEBRILE SEIZURES INCLUDE: 1. +FAMILY HISTORY 2. ATYPICAL FEBRILE CONVULSN 3. DELAYED DEV MILESTONE 4. ABN NEUROLOGICAL FINDINGS INCIDENCE OF EPILEPSY: 9% WHEN R/F + 1% WHEN NO R/F + Rx: DOC --PCM INTERMITTENT PROPHYLAXIS—PCM+DIAZEPAM/CLOBAZAM CONT PROPHYLAXIS—PHENOBARBITONE + Na VALPROATE CONT PROPHYLAXIS IS NT INDICATED NEUROCUT SYN: NEUROFIBROMATOSIS (VON RECKLINGHAUSEN DS): AD DISORDER NF-1 DIAG IF ANY 2 OF FOLLOWING SIGNS +: MOST PREVALENT TYPE(90%) 1. 6/↑CAFÉ-AU-LAIT MACULES—IT IS HALLMARK & + IN 100% OF PTS 2. AXILLARY/INGUINAL FRECKLING(PATHOGNOMONIC) 3. 2/↑IRIS LISCH NODULES 4. PLEXIFORM NEUROFIBROMA

5. OPTIC GLIOMA--MC TUMOUR ASS 6. DISTINCTIVE OOSSEOUS LESIONS s.a. SPHENOID DYSPLASIA@/@OUT PSEUDOARTHROSIS.SCOLIOSIS –MC ORTHOPEDIC MANIFESTATN 7. 1st DEGREE RELATIVE NF-2 WHEN 1 OF FOLOWING +: 1. B/L ACOUSTIC NEUROMA—MOST DISTINC TIVE TUMOUR 2. A PARENT SIBLING/CHILD @ NF-2 & EITHER 8th N MASSES/ANY 2 OF FOLLOWING: NEUROFIBROMA, MENINGIOMA,GLIOMA, SCHANNOMA/ JUVENILE POST SUBCAPSULAR LENTICULAR OPACITIES STRUGE WEBER DS: RESULT FROM ANOMALOUS DEV OF PRIMORDIAL VAS BED DURING EARLY STAGES OF CEREBRAL VASCULARISATN. THE LEPROMENINGES ARE RICHLY VASCULARISED & BRAIN BENEATH BECOMES ATROPHIED & CALCIFIED,SP MOLECULAR LAYER OF CORTEX. C/Fs: 1. CUTANEOUS:FACIAL NEVUS(PORT WINE STAIN) + AT BIRTH TEND TO BE UNILAT ALWAYS INVOLVE UPPER FACE & EYELID MAY INVOLVE LOWER FACE & MUCOSA OF MOUTH &PHARYNX 2. NEUROLOGICAL:SEIZURES (HALLMARK) & HEMIPARESIS CONTRALAT TO FACIAL NEVUS MR BUPHTHALMOS & GLAUCOMA-IPSILAT EYES DIAG: SKULL XRAY:INTRACRANIAL CALCIFICATN IN OCCIPITOPARIETAL REGION --RAILROAD-TRACK APP SERPSNTINE APP CT SCAN: UNILAT CORTICAL ATROPHY IPSILAT DILATATN OF LAT VENTRICLE EXTENT OF CALCIFICATN TUBEROUS SCLEROSIS (BOURNEVILLE’S DS): • AD • CHR BY: SKIN INVOLVEMENT—ADENOMA SEBACIUM: FACIAL ANGIOFIBROMA ASF LEAF ↓PIG LESION SHAGREEN PATCH— YELLOW THICK SKIN OVER LS REGION DEPIGMENTED NEVI NEUROLOGICAL--- EPILEPSY MR CHR BRAIN LESION CONSISTS OF TUBERS

ON CT—SUBEPENDYMAL REGION TUBERS UNDERGO CALCIFICATN & PROJECT INTO VEN CAVITY PRODUCING CANDLE DRIPPING APP BENIGN NEOPLSM---RHABDOMYOMA OF MYOCARDIUM ANGIOMYOMA OF KIDNEY/LIVER/ PANCREAS/ ADRENALS • INFANCY—INFANTILE SPASMS HYPSARRHYTHMIA ON EEG ASF LEAF ↓PIG LESION • 4-6YRS—SEBACEOUS ADENOMA—RED NODULE OVER NOSE SHAGREEN PATCH—LS REGION VON –HIPPEL LINDAU DS: LIFE THREATNING PHAKOMATOSIS C/Fs: HEMANGIOBLASTOMAS:CAPILLARY HEMANGIOMAS OF RETINA/OPTIC N. HEAD

+/TUMOURS:HEMANGIOBLASTOMA— CEREBELLUM, SP.CORD, MEDULLA / PONS RENAL CA PHEOCHROMOCYTOMA CYSTS: RENAL, PANCREATIC, HEPATIC EPIDYDYMAL,OVARIAN PULMONARY POLYCYTHEMA ACUTE BAC MENINGITIS: ETIOLOGY: NEONATAL PERODGM- BACILLI (MC)—E.COLI, KLEBSIELLA GR –B STREPTOCOCCI (WORLD)--STR.AGACTACAE L.MONOCYTOGENES 2MNTH—3YRH.INFLUENZAE (MC) STR. PNEUMONIAE (WORLD) MENINGOCOCCI >3 YRPNEUMOCOCCI CONG/ACQ CSF LEAK BASAL SKULL=//= PNEUMOCOCCI ASPLENIC STATE COMPLEMENT DEF C5-C9MENINGOCOCCAL SHUNT INFSTAPH EPIDERMIDIS T CELL DEFECT(CONG OR ACQ BY CHEMORx, AIDS/MALIGNANCY) —L.MONOCYGENES

LAB DIAG: CSF VOL: 150ML (P) CELL COUNT PROTEIN SUGAR Cl (N) 50-80mm <5microlt 202/3 OF 116Hg=DIASTOLIC 50mg/dl BL==50mg/dl 122mg/dl BAC ↑ 10-10000 100-500 1/3 ↓ Pins CELL MOSTLY VIRAL N/↑ 10-1000 50-200 (N) ↓↓ EARLY-PMNs THENLYMPHOCYTIC TB ↑↑ 10-1000 100-3000 1/3-2/3 N EARLY-PMNs THENLYMPHOCYTIC TBM:EXUDATE MAINLY BASAL INVLVES CISTERNS SUBARACHNOIDITIS +-DUE TO EXUDATE INVOLVEMENT IS MAINLY OF LEPTOMENINGITISi.e. PIA ARACHNOID DURAMATER USUALLY SPARED COMMUNICATING HYDROCEPHALUS-USUALLY PERSISTENT NT IMPROVE BY ATT CALCIFICATN IN MENINGES AT BASE VENTRICULITIS NT COMMON COMPLICATNS OF MENINGITIS: HYDROCEPHALUS CRANIAL N INVOLVEMENT SEIZURES SUBDURAL EFFUSIONS SUBDURAL EMPYEMA CEREBRAL HERNIATN d/t ↑ ICT

MOVEMENT DISORDER: ACUTE CEREBELLAR ATAXIA: ACUTE PHASE OF VIRAL ILLNESSATAXIC, DYSARTHIC ATAXIA TELANGIECTASIA: C/Fs: 2 YRS—ATAXIA OCCULOMOTOR APRAXIA HORIZONTAL NYSTAGMUS MID CHILDHOOD—TELANGIECTASIA (OVER BRIDGE OF NOSE) LOSS OF ELASTICITY OF SKIN

GROSS APP TURBID CLEAR

CLEAR(MAY CLOT)

PT HAVE –IgA DEF FREQ SINO-PUL INF ↑PREDISPOSITN TO LYMPHORET MALIGNANCIES DUE TO DEFECT IN CHROMOSOMAL REPAIR ↑∞FETOPROTEIN LEVEL FRIEDREICH ATAXIA: AR DUE TO DEGENERATN OF 3 LONG SP. TRACT —DORSAL, PYRAMIDAL, SPINO CEREBELLAR LOSS OF POSITN & VIBRATN SENSE ATAXIA, NYSTAGMUS, DYSARTHRIA, & AREFLEXIA (DUE TO CEREBELLAR DYS) DTR CHR ABSENT PLANTER ↑AS PYRAMIDAL INVOLVEMENT DISORDER

PYRAMIDAL TRACT INVOLVEMEN T +

POST COLUMN INVOLVEMENT

DTRs

+

AREFLEXIA

↑

SACD

+

+

↑↑

↑

TABES DORSALIS(3* SYPHILIS)

-

-

AREFLEXIA

_

FRIEDRICH’S ATAXIA(GEN ETIC)

PLANTER

ASSOCIATNS NEUROLOGICAL

OTHERS

WIDE BASED ATAXIA NYSTAGMUS DYSARTHRIA DYSMERIA SPASTIC GAIT (INITIALLY ATAXIC) ARGYLL ROBERTSON PUPIL

OPTIC ATROPHY CARDIOMYOPATHY DM SK ABN

ABETALIPOPROTEINEMIA: BEGIN IN CHILDHOOD @ STEATORRHOEA & FAILURE TO THRIVE DISORDER OF FAT MALABS BL SMEAR SHOWS—ACANTHOCYTOSIS ↓ SERUM CHOLESTEROL VIT E LEVEL UNDETECTABLE IN SERUM OF PT NEUROLOGICAL SYMS SYDENHAM CHOREA RHEUMATIC CHOREA): SOLE NEUROLOGICAL MANIFESTATN OF RF FOLLOWING FEATURES ARE ALSO +: 1. MILK MAID GRIP 2. WHEN HAND OUTSTRETCHED ABOVE HEAD,FOREARM TENDS TO PRONATE 3. CONING OF HAND—WHEN HANDS STRETCHED FORWARDS,PT FLEXES WRIST & ↑PEREXTENDS FINGERS 4. DARTING TONGUE—CHILD CANNT MAINTAIN TONGUE IN PROTRUDED POSITN 5. HUNG UP REFLEX IN KNEE

↓ SERUM B12 MEGALOBLASTIC ANEMIA ATONIC BLADDER

NEUROMUS DS: MS WEAKNESS & WASTING DTR FASCICULATN SENSORY ABN MS PAIN MYALGIA

MYOPATHIES PROX EX. MYOTONIC MS DYSTROPHY + GEN+ EX.MS TROPHIES

NEUROPATHIES DISTAL EX. SMA + + + EX.SMA

LAB FINDINGS: SERUM ENZ:CPK,LDH, SGOT ALL↑IN MYOPATHY N—IN NEUROPATHY NCV: ↓IN NEUROPATHIES 80%TOTAL N FIBRES MUST INVOLVE BEFORE SLOWING EMG: ↑SP THAN BIOPSY IN DIAG OF M. GRAVIS MS BIOPSY: THE MOST IMP & SP DIAG NOSTIC STUDY OF MS.VASTUS LAT MC SAMPLED.DELTOID MS SHOULD BE AVOIDED IN MOST CASES. N BIOPSY: MC SAMPLE SURAL N.PURE SENSORY N. 90% REGENERATED. CONG MYOPATHIES: CHR BY: ONSET IN EARLY LIFE NON /SLOWLY PROGRESSIVE PROX/GEN MS WEAKNESS HYPOTONIA TYPES: 1. MYOTUBULAR MYOPATHY 2. CONG MS FIBRE TYPE DISPROPORTN(CMFTD) 3. NEMALINE ROD MYOPATHY 4. CENTRAL CORE DS—ASS @ MALIG ↑THERMIA COMMON FEATURES: 1. ↓FETAL MOVEMENT PERCEIVED IN LATE GESTATN 2. POLY HYDRAMNIOS COMMON COMPLICATN BECAUSE OF PHARYNGEAL WEAKNESS OF FETUS & INABILITY TO SWALLOW AMNIOTIC FLUID MS DYSTROPHIES: 1. 1* MYOPATHY 2. GENETIC BASIS 3. COURSE PROGRESSIVE 4. DEGENERATN & DEATH OF MS FIBRES OCCUR AT SOME STG OF DS MS DYSTROPHIES: GENETIC CLASSIFICATN:

DISEASE 1. X-LINKED DYSTROPHIES DUCHENNE/BECKER EMRY-DRIFUSS 2.LIMB-GIRDLE MS DYS 3. CONG MS DYS 5. OTHER DYSTROPHIES MYOTONIC MS DYS FACIOSCAPULOHUMERAL OCULOPHARYNGEAL

INHERITENCE XR AD/AR AR AD

DUCHHENE MS DYSTROPHY: Mc hereditary nm ds CAUSED BY MUTATN IN GENE RESPONSIBLE FOR PRODUCING DYSTROPHIN.DYSTROPHIN IS SUBSARCOLEMNAL PROTEIN LOCALISED IN INNER SURFACE OF SARCOLEMMA OF MS FIBRE X LINKED RECESSIVE TRAIT C/Fs: RARELY SYM AT BIRTH UPTO 1 YR N GOWER SIGN IS OFTEN EVIDENT BY AGE 3 YR & FULLY EXPRESSED BY AGE 5/6 YR CONFINED TO WHEEL CHAIR /INABILITY TO WALK>12YRS RES FAILURE-IN 2nd & 3rd DECADE (>16-18) ↑CALVES(PSEUDOHYPERTROPHY) & WASTING OF THIGH MS IS A CLASSIC FEATURE.AFTER CALVES NEXT MC SITE TONGUE FOLLOWED BY MS OF FOREARM .OTHER MS—GLUTEI,DELTOID,S.ANT,BRACHIORADIALIS ATROPHIED. -- STERNAL HEAD OF P.MAJOR & SUPRASPINATUS LOSS OF MS STRENGTH PROGRESIVE PROX MS & NECK FLXRS ↑ INVOLVED LEG INVOLVEMENT ↑ SEV THAN ARM INVOLVEMENT UNLESS ANKLE CONTRATURES SEV ANKLE JERKS REMAIN WELL PRESERVED TILL TERMINAL STG.IN UPPER EX , BRACHIORADIALIS REFLEX USUALLY STRONGER THAN BICEPS/TRICEPS COMPLICATNS: CHEST DEFORMITY (SCOLIOSIS)—IMPAIR PUL FUNC CARDIAC—CARDIOMYOPATHY INTELLECTUAL IMPAIRMENT DEATH OCCURS: USUALLY AT 18 YRS .CAUSE –RES FAILURE IN SLEEP,INTRACTIBLE HT FAILURE,PNEUMONIA /OCCASINAL ASPIRATN. LAB DIAG: SERUM CK : ↑ EMG BIOPSY NEEDED FOR DEFINITIVE DIAG

MYOTONIC MS DYSTROPHY: AD MC ADULT MS DYSTROPHY TRANSMITTED BY MUTATN IN AN UNSTABLE TRINUCLEOTIDE REPEAT SEQ IN A GENE AT 19q133 MS ATROPHY SELECTIVELY INVOLVE TYPE-I FIBRES ONLY(50% CASES) NT ONLY STRIATED MS SEV AFFECTED BUT SMOOTH MS OF ALIMENTARY TRACT & UT ALSO INBVOLVED. USUALLY APPEAR BY 5 YRS & CAUSES SLOW RELAXATN OF HAND GRIP FOLOWING A FORCED VOL CLOSURE MULTIPLE VARIABLE ENDOCRINOPATHIES, IMMUNOLOGIC DEF, CATARACTS, DYSMORPHIC FACIES, INTELLECTUAL IMPAIRMENT OTHER FEAATURES: • MYOTONIA • DISTAL DISTRIBUTN OF MS WEAKNESS & WASTING, MYALGIA X OCCUR • ANTICIPATN PHENOMENON—EACH SUCCESSIVE GEN HAS TENDENCY TO BE ↑ SEV INVOLVE—DUE TO TRIPLE CODON TRANSMISSION SPINAL MS ATROPHY: 3TYPES 1. INFANTILE FORM-WERDING HOFFMANN DS TYPE-I 2. LATE INFANTILE FORM TYPE-II 3. CHR/JUVENILE FORM KUGELBERG-WELANDER DS TYPE-III C/Fs: TYPE-I: LOSS OF FETAL MOV IN LATE PREG & POLYHYDROAMNIOS SEV ↓TONIA DTR ABSENT 1* IDIOPATHIC POLYMYOSITIS: AUTOIMMUNE ETIOLOGY SK MS DAMAGED BY NON SUPPURATIVE INFL PROCESS DOMINATED BY LYMPHOCYTIC INFILTRATN CHR BY: SYM WEAKNESS OF PROX LIMB MS SP PELVIC & LATER SHOULDER GIRDLE WEAKNESS OF FLEXOR MS OF NECK INVOLVEMENT OF STRIATED MS OF PHARYNX (DYSPHAGIA) INVOLVEMENT OF RES MSs (LATE) OCULAR MSs ALMOST NEVER AFFECTED FACIAL MS ARE UNAFFECTED DIAG: OF EXCLUSION. WHO DON’T HAVE 1. RASH 2. INVOLVEMENT OF EXTRAOCULAR/FASCIAL MSs DERMATOMYOSITIS: 2 COMPONENTS

1. RASH— HELITROPE—BLUE PURPLE DISCOLOURATN OF UPPER EYELIDS @ EDEMA GOTTRON’S—ERYTHEMA OF KNUCKLES @ RAISED VIOLACEOUS SCALY ERUPTN.FLAT RED RASH ON FACE & UPPER TRUNK 2. MS WEAKNESS DISORDER OF MS MEM EXCITABILITY: CHANNELOPATHIES: CAT DISORDER ATAXIAS EPISODIC ATAXIA-1 EPISODIC ATAXIA-2 SPINOCEREBELLAR ATAXIA-6 MIGRANE FAM HEMIPLEGIC MIGRANE EPILEPSY BENIGN NEONAT FAM CONVULSN PERIODIC ↑K+ PERIODIC PARALYSIS PARALYSIS ↓K+ PERIODIC PARALYSIS MYOTONIA MYOTONIA CONGENITA PARAMYOTONIA CONGENITA DEAFNESS

CHANNEL TYPE K Ca Ca K Na Ca Cl Na

Ca CHANNEL DISORDER OF MS: ↓K+PERIODIC PARALYSIS: (AD) PPT IN SOME PTS BY ↑ALDOSTERONISM/↑THYROIDISM BY ADM OF AMPHO B/BY INJ LICORICE MEALS ↑ IN CARBOHYDRATE/Na CAN ALSO PROVOKE ATTACKS IN CHILDHOOD PERIODIC PARALYSIS IS OFTEN AN EPISODIC EVENT PTS N BETWN ATTACKS IN ADULTHOOD THERE IS PROGRESSIVE MYOPATHY @ PERMANENT WEAKNESS EVEN BETWN ATTACKS DIAGNOSIS: ↓SERUM K+ DURING ATTACK MS BIOPSY SHOWS VACUOLAR MYOPATHY Na CHANNEL DISORDER OF MS: ↑K+ PERIODIC PARALYSIS: (AD) TERM ↓K+ MISLEADING SINCE PTS OFTEN NORMOK+ DURING ATTACKS. IT IS FACT ATTACKS PPT BY K ADM THAT BEST DEFINES THE DISORDERS DIAG SUGGEST BY MODEST ↑OF SERUM K+DURING ATTACKS-NEARLY ½ OF PT RANDOM SERUM MEASUREMENT SUGGEST DIAG SINCE K LEVEL ↑FREQ DURING ATTACK FREE INTERVALS PARAMYOTONIA CONGENITA: TEMP RELATED MYOTONIA AGGRAVATED BY COLD & RELIEVED BY WARM EXT TEMP

CHR BY PARADOXICAL MYOTONIA (i.e MYTONIA WORSEN DURING ACTIVITY) Cl CHANNEL DISORDER OF MS: MYOTONIA CONGENITA (THOMSEN DS): CHR BY WAEKNESS & GEN MS ↑TROPHY s.t. AFFECTED CHILDREN RESMBLE BODY BUILDERS MYOTONIA IS PROMINENT DEV AT 2-3YRS MYAESTHENIA GRAVIS: AM DISORDER MED BY SP ANTI ACH (R) Abs POSTSYNAPTIC DISORDER ↑ WOMEN ASS—THYMIC ABNS & THYMOMAS CHR FEATURES: • CRANIOFASCIAL MS WEAKNESS: LID & EXTRAOCULAR MS—DIPLOPIA & PTOSIS COMMON EARLY COMPLICATN FACIAL WEAKNESS-SNARLING EXPRESSION NASAL SPEECH DIFF IN SWALLOWING & NASAL REGURGITATN MSs OF NECK SP EXTENSORS FREQ INVOLVE • LIMB MSs: 85% AFFECTED PROX WEAKNESS USUALLY SYMMETRIC • WEAKNESS OF RES MSs • REFLEXES :INTACT DIAG: EDROPHONIUM/TENSILON TEST REPEATED N + --↓ SINGLE FIBRE EMG--↑JITTER, CONFIRMATORY NT SPECIFIC RADIO IMMUNOASSAY—ANTI-ACHR ANTIBODY RESPONSE ANTI Musk ANTIBODIES Rx: THYMECTOMY SHOULD BE CONSIDERED IN ALL PTS @ GEN M. GRAVIS <60YRS NT INDICATED IF WEAKNESS RESTRICTED TO EXTRAOCULAR MSs GUILLAIN BARRE SYN: • AI DISEASE CHR BY ACUTE DEMYELINATING POLY NEUROPATHY • PECEEDED BY VIRAL INF s.a. HERPES GR:CMV/EBV C.JEJUNI GASTROENTERITIS LYMPHOMA/LUPUS ERYTHEMATOSUS • C/Fs:

PREDOMINENT MOTOR INVOLVEMENT PARA/QUADRIPLEGIA ↑↑PROX>DISTAL MS ASCENDING PATTERN OF PARALYSIS CRANIAL N INVOLVEMENT: MC B/L FACIAL & THEN BULBAR MS ARFLEXIA: DTR DISAPPEAR @IN 1st FEW DAYS OF ONSET SENSORY DISTURBANCE MAY/ MAT NT + BLADER & BOWEL RARELY INVOLVE AUTONOMIC INVOLVEMENT CHR BY POST ↓ TENSN, TACHYCARDIA • CSF FINDINGS: ALBUMINO CYTOLOGICAL DISSOCIATN i.e. ↑ PROTEINS @ N CELLS CSF PLEOCYTOSIS @ CELLS>50/mm3 AGAINST DIAG OF GBS CSF N WHEN SYMS = FOR < 48HRS.IT ↑BY END OF 1st WK • N CONDUCTN STUDIES SHOWS DEMYELINATN i.e. ↓CINDUCTN VELOCITY, DISTAL LATENCY, CONDUCTN BLOCK • PROGNOSIS APP 85% ACHIEVE FULL FUNC RECOVERY @IN SEV MNTHS TO A YR • Rx EITHER ↑ DOSES IV Ig / PLSMAPHERESIS—EQUALLY EFFECTIVE EATEN LAMBERT MYASTHENIA SYN: ASS@: PARANEOPLSTIC SYN SMALL CELL CA LUNG CERTAIN AI DS DEFECT : PRESYNAPTIC DISORDER PRESTATN: OPP TO M.GRAVIS PROX LIMB MSs >>EXTRAOCULAR & LID MS DIAG: REPEATED N +--INCREMENTAL RESPONSE RADIO IMMUNE ASSAY: Abs TO Ca CHANNELS(P/Q TYPE) DESCENDING PARALYSIS: DIPHTHERIA BOTULISM POLIO TETANUS

Somatic Development: EMBRYONIC PERIOD:.

DBP-T

By 6 days postconceptual age, as implantation begins, the embryo consists of a spherical mass cells with a central cavity (the blastocyst). By 2 wk, implantation is complete and the uteroplacental circulation has begun; the embryo has two distinct layers, endo and ectoderm, and the amnion has begun to form. By 3 wk, the third primary germ layer (mesoderm) has appeared, along with primitive neural tube and blood vesssels Paired heart tubes have begun to pump. During wk 4–8, lateral folding of the embryologic plate, followed by growth at the cranial and caudal ends and the budding of arms and legs, produces a human-like shape. Precursors of skeletal muscle and vertebrae (somites) appear, along with the branchial arches that will form the mandible, maxilla, palate, external ear, and other head and neck structures. Lens placodes appear, marking the site of future eyes; the brain grows rapidly. By the end of wk 8, as the embryonic period close rudiments of all major organ systems have developed; the average embryo weighs 9?g and has a crown-rump length of 5?cm. FETAL PERIOD:. From the 9th wk on (the fetal period), somatic changes consist of increases in cell number and size and structural remodeling of several organ systems. By 10 wk, the face is recognizably human. The midgut returns from the umbilical cord into the abdomen, rotating counterclockwise to bring the stomach, small intestine, and large intestine into their normal positions. By 12 wk, the gender of the external genitals becomes clearly distinguishable. Lung development proceeds with the budding of bronchi, bronchioles, and successively smaller divisions. By 20–24 wk, primitive alveoli have form and surfactant production has begun; before that time, the absence of alveoli renders the lungs useless as organs of gas exchange. During the 3rd trimester, weight triples and length doubles as body stores of protein, fat, iron, and calcium increase Milestones of Prenatal Development: Week Developmental Events 1. Fertilization and implantation; beginning of embryonic period 2 .Endoderm and ectoderm appear (bilaminar embryo) 3 .First missed menstrual period; mesoderm appears (trilaminar embryo); somites begin to form 4 .Neural folds fuse; folding of embryo into human-like shape; arm and leg buds appear; crown-rump length 4–5?mm 5. Lens placodes, primitive mouth, digital rays on hands 6 .Primitive nose, philtrum, primary palate; crown-rump length 21–23?mm 7 .Eyelids begin 8 .Ovaries and testes distinguishable 9 . Fetal period begins; crown-rump length 5?cm; weight 9?g 10 .External genitals distinguishable 20. Usual lower limit of viability; weight 460?g; length 19?cm 25 .Third trimester begins; weight 900?g; length 25?cm 28 .Eyes open; fetus turns head down; weight 1,300?g 38 Term

A newborn's weight may decrease 10% below birthweight in the 1st wk as a result of excretion of excess TABLE Formulas for Approximate Average Height and Weight of Normal Infants and Children Weight Kilograms (Pounds) At birth 3.25 (7) 3–12 mo (age [mo] + 11) 1–6 yr age (yr) × 2 + 8 (age [yr] × 5 + 17) 7–12 yr age (yr) × 7 + 5 Height Centimeters (Inches) At birth 50 (20) At 1 yr 75 (30) 2–12 yr age (yr) × 6 + 77 (age [yr] × 21/2 + 30)