1. CLINICOPATHOLOGIC CONFERENCE GROUP 8 Cabal, Cabrera, Cachola, Cajucom, Callang, Cantor, Chen, Chu, Co, Cuenca-Cajucom, De Jesus, Delos Reyes

2. GENERAL DATA T.M.D. 7 year old/male Filipino Jehovah’s Witness Valenzuela City Informant: Mother Reliability: Good

3. BEHAVIORAL CHANGES Chief Complaint

4. HISTORY OF PRESENT ILLNESS 20 months PTA (Nov. 2007) 17 months PTA (Feb. 2008) Inattentiveness in class Acute onset of high grade fever – AVI r/o Dengue fever, given Isoprinosine – UTI, given Cefaclor Quiet, stayed in 1 corner, played alone, stare blankly when asked

5. HISTORY OF PRESENT ILLNESS 16 months PTA (March 2008) 15 months PTA (April 2008) Clumsy, would bump into things at home and at school – Astigmatism, given glasses Uncontrollable tantrums, disobedient, episodes of blurred vision, regression of speech – EEG: background activity for age in both wakefulness and speech – BAER: normal – t/c Encephalitis, advised admission

6. HISTORY OF PRESENT ILLNESS 14 months PTA (May 2008) Admitted at a Pediatric Hospital for 3 days – PE: essentially normal – NE: awake, inattentive, does not follow commands, inconsistent responses to visual stimuli, inappropriate affect, disinhibition, pupils equal and reactive to light, normal fundoscopic findings, fleeting eye contact, can swallow and chew food, no focal weakness, steady gait, hyperactive DTRs, (+) ankle clonus – Repeat EEG: Encephalitis – MRI: Leading edge enhancement diffusely involving the parietal, temporal and occipital deep white matter – Serum cortisol: Normal – Plasma VLCFA: Increased – Given Risperidal for 2 days – Assessment: Adenoleukodystrophy

7. REVIEW OF SYSTEMS (-) weight loss, fever, weakness (-) rash, mucosal ulceration, skin pigmentation changes (-) nasoaural discharge, sore throat (-) dyspnea, chest pain, palpitations, orthopnea (-) nausea, vomiting, bowel and bladder changes (-) swelling in bone, joint, muscle

8. DEVELOPMENTAL HISTORY At par with age Accelerated in kindergarten, consistently on the top 5 of his class, honor student Leader of the class, gets along well with peers and elders

9. IMMUNIZATIONS (+) BCG at right deltoid (+) DTP- 3 doses (+) OPV- 3 doses (+) Hepa B – 3 doses (+) Hib- 3 doses (+) Measles (+) MMR (+) Pneumococcal vaccine (+) Typhoid vaccine (+) Meningococcal vaccine

10. PAST MEDICAL HISTORY (-) Asthma (-) Allergy (-) Pneumonia (-) TB (-) Blood transfusion

11. FAMILY PROFILE AGE/GENDEREDUCATIONOCCUPATION MD (father)30/MCollege graduate Computer Data Analyst Apparently healthy MD (mother)30/FCollege graduate HousewifeALD carrier KD (brother)3/MAutism, ALD FD (sister)2/FALD carrier

12. FAMILY HISTORY (-) hypertension (-) diabetes, thyroid disease, adrenal insufficiency (-) asthma/ allergy (-) cancer (-) congenital anomalies (-) bipolar disorder- nephew

13. SOCIO-ECONOMIC AND ENVIRONMENTAL HISTORY Well-lit, well-ventilated, two bedroom apartment in a subdivision with 1 dog No factories nearby Distilled drinking water Garbage is collected and disposed daily. The father is the breadwinner while the mother is the primary caregiver.

14. PHYSICAL EXAMINATION Awake, carried, well-hydrated, well-nourished, not in cardio-respiratory distress BP 90/60 HR 88bpm, regular, RR 20cpm, Temp 36.8C Wt 24.7 Kg (normal, Lt 134 cm (normal) Warm moist skin, no active dermatoses Pink palpebral conjunctivae, anicteric sclera, pupils 3- 4 mm equally reactive to light, no tragal tenderness Non-hyperemic external auditory canal, retained cerumen, turbinates not congested, no nasal discharge, Moist buccal mucosa, nonhyperemic posterior pharyngeal wall, tonsils not enlarged, Supple neck, palpable cervical lymph nodes

15. Adynamic precordium, AB at 5 th LICS MCL, no murmurs Symmetrical chest expansion, no retractions, clear breath sounds Soft, nontender abdomen, normoactive bowel sounds, no organomegaly, no palpable masses Grossly male, bilaterally descended testes, (-) hypospadia, (-) phimosis Spastic both upper and lower extremities, pulses full and equal, no cyanosis, no clubbing, bilaterally inverted feet PHYSICAL EXAMINATION

16. NEUROLOGIC EXAMINATION Awake, cannot follow commands, no verbal output Pupils 2-3 mm equally reactive to light, no visual regard with no visual threats, drooling of saliva, weak gag reflex, can turn head from side to side Decreased muscle bulk of the lower extremities Generalized spasticity DTRs ++++, bilateral ankle clonus Bilateral babinski

17. SALIENT FEATURES SUBJECTIVE Behavioral changes: inattentiveness in class, uncontrollable tantrums, disobedient, episodes of blurred vision, regression of speech Previous episode of high grade fever OBJECTIVE Awake, cannot follow commands, no verbal output, pupils 2-3 mm equally reactive to light, no visual regard with no visual threats, drooling of saliva, weak gag reflex, can turn head from side to side, decreased muscle bulk of the lower extremities, generalized spasticity, DTRs ++++, bilateral ankle clonus, bilateral babinski EEG: Encephalitis MRI: Leading edge enhancement diffusely involving the parietal, temporal and occipital deep white matter Plasma VLCFA: Increased

18. CEREBRAL ADENOLEUKODYSTROPHY ASSESSMENT