hassanain toma, md neurology pgy-4 movember 2 nd,2012 neurology case of the week become a member of...
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HASSANAIN TOMA, MDNEUROLOGY PGY-4
MOVEMBER 2 N D ,2012
Neurology Case of the Week
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HPI
5 yo Caucasian boy
Admission - 11 days:Fever of 104 -> diagnosed with a sore throat and placed on antibiotics
Admission - 8 days:Diarrhea after -> stopped abx -> diarrhea continued.coughing, nasal congestion, and rhinorrhea
Admission - 7 daysVomiting x 4 days, decreased PO intake.
Admission -1 daycrying episodes.
Admission:Abdominal pain, screaming due to painHe was transferred here for further evaluation his abdominal pain.Next day became increasingly lethargic, and was intubated for airway protection.
GROWTH/DEVELOPMENT: Growth delay and mild
development delay. Able to walk, speaks. Attends kindergarten.
PAST MEDICAL/SURGICAL/BIRTH HISTORY: Eczema Hypothyroidism milk allergy (has since grown out
of this per mom) ADHD.
PAST SURGICAL No surgeries.
MEDICATIONS: Levothyroxine Antacid strattera
Adverse Reactions/Allergies: Milk Products(Rashes)
FAMILY HISTORY: Asthma, HTN.
SOCIAL HISTORY: Parents live separately.
Preston spends time at each parent's house.
Dad smokes outside the home.
IMMUNIZATIONS: Up to date per mom.
Physical Exam
General: Intubated, appears of stated age. No spontaneous movement.
Head/Neck: Microcephalic. No neck masses.
Eyes: PERRL. Erythema of conjunctiva of left eye.
ENT: TM's pearly and nonbulging bilaterally. No erythema or exudate of oropharynx. Dry lips.
Chest: CTAB, no wheezing.
CV: RRR, no murmurs, rubs, or gallops.
Abdomen: abdomen is soft. Non distended. +BS
Lymph: No cervical LAD.
Skin: No rashes seen on visible skin.
Mental State: Obtunded, not responsive to stimuli.
CN II: PERRL slow reacting. CN III & IV: Positve dolls.CN V: Grimaces pain. Corneal reflex
preserved in both eyes.CN VI: Unable to access extra ocular
movements intact bilaterally.CN VII: Symmetrical face.CN VIII: Unable to assess hearing.CN IX & X: Gag present.
Motor: The tone is hypertonic with rigidity.
Sensory: withdraws to pain.Reflexes: 3 diffusely. Upgoing toes.Coordination: could not be tested.Gait: could not be tested.
Labs
HEMATOLOGY WBC 9.46HGB 12.4HCT 35.2%Platelet 182% Band 32.9 %
URINALYSIS/FECESColor Ur STRAW
Clarity Ur CLEAR
Specific Gravity Ur 1.030pH Ur 6.0Glucose Ur NEGATIVEKetones Ur 2+ AProtein Ur NEGATIVEBlood Ur NEGATIVEBili Ur NEGATIVEUrobilinogen Ur NORMALNitrite Ur NEGATIVELeukocytes Ur NEGATIVEWBC Ur 1-4RBC Ur 1-4Bacteria Ur NONERenal Epithelial Cells Ur FEW
Casts Ur NONECrystals Ur NONE
CHEMISTRYSodium 137 Potassium 4.0Chloride 101 Carbon Dioxide22 Anion Gap 14 Calcium 9.3Glucose 93 BUN 10 Creatinine 0.31 C Reactive Prot 2.3 H
Protein Total 6.5Alb 3.6Bili, Total 0.6Bili, Direct 0.0Bili, Indirect 0.3AST146 H ALT 138 H AP 143Amylase 70 Lipase 308 H Sed Rate 34H
ENDOCRINOLOGY TSH
3.02 T4 Free
1.5
CSF Clarity CLEARColor COLORLESSRBC 0WBC 2Glucose 79Protein 41
Labs
INF DIS/ANTIGEN/MOLECULARAdenovirus PCR Quant Plasma Not Dete Adenovirus PCR Quant CSF Not Dete West Nile PCR CSF Negative West Nile PCR Blood Negative EBV PCR Quant CSF Not Dete VZV PCR Quant CSF Not Dete
SEROLOGY/INF DISEASE
E Equine Enceph IgG CSF <1:10 E Equine Enceph IgM CSF <1:10 Calif Enceph IgG CSF <1:10 Calif Enceph IgM CSF <1:10 St. Louis Enceph IgG CSF <1:10 St. Louis Enceph IgM CSF <1:10 W Equine Enceph IgG CSF <1:10 W Equine Enceph IgM CSF <1:10 West Nile Virus IgG CSF Negative West Nile Virus IgM CSF Negative Bart henselae IgG <1:128 Bart henselae IgM <1:20 Bart quintana IgG <1:128 Bart quintana IgM <1:20 Calif (LaCross) IgG <1:10 Calif (LaCross) IgM <1:10 E Equine Enceph IgG <1:10 E Equine Enceph IgM <1:10 St Louis Enceph IgG <1:10 St Louis Enceph IgM <1:10 W Equine Enceph IgG <1:10 W Equine Enceph IgM <1:10 Mycoplasma Ab IgG 0.08 Mycoplasma Ab IgG Interp Negative Mycoplasma Ab IgM 0.12 Mycoplasma Ab IgM Interp Negative
BIOCHEMICAL GENETICS Phosphoserine 7 Taurine 78 Phosphoethanolamine 0 Aspartic Acid 21 Hydroxy Proline 0 Threonine 304 H Serine 132 Asparagine 73 Glutamic Acid 58 Glutamine 609 Sarcosine 0 Proline 153 Glycine 339 Alanine 464 Citrulline 9 Alpha Amino Butyric Acid 23 Valine 245 Cystine 57 H Methionine 42 Cystathionine 0 Isoleucine 70 Leucine 152 Tyrosine 68 Phenylalanine 87 B-Alanine 0 Homocystine 0 Ornithine 80 Lysine 277 Histidine 74 Arginine 146 H
MOLECULAR INF DISEASECMV PCR QuantNEGEnterovirus RT-PCR NEGEpstein Barr Virus PCR NEGHerpes Simplex Virus PCR NEGRespiratory Viral Panel PCR Influenza A (subtypes H1, 2009 H1, H3) Influenza B Respiratory Syncytial Virus (RSV) Adenovirus POS Human Metapneumovirus Parainfluenza 1,2,3,4 Rhinovirus/Enterovirus Bordetella pertussis Chlamydophila pneumonia Mycoplasma pneumonia Coronavirus (HKU1, NL63, OC43 and 229E)
Background
Establishment as a new disease in 1995
Higher incidence in East Asian countries
Handful of cases in Caucasians
M=F
Peak at 6-18 months old, but can occur in up to 11yo < 5yo 81.8%. Mortality rate 31.8 Neurological sequelae (27.7%) coagulopathy, hepatic dysfunction, and computed tomographic
abnormalitieshad a poor prognosis.
Acute Presentation
Convulsions are 1st sign of brain dysfunction 0.5-3 days after onset of antecedent infections
Histology-> encephaloPATHY
Necrosis (due to severe edema) in the thalami, tegmentum, and dentate nuclei
Florid petechial hemorrhage around small parenchymal vessels
Patchy cerebral white matter lesions of ANE are not hemorrhagic
Absence of inflammatory cells in brain parenchyma is characteristic, Differentiates ANE from acute disseminated
encephalomyelitis & acute hemorrhagic encephalitis
Pathogenesis
1- Viral invasion of central nervous system Controversial- via peripheral nerves? positive viral RNA in CSF and brain but lack of inflammation in brain tissue of fatal cases Not dependent on infectious agents. Vascular endothelial cells, astrocytes and neurons -> apoptosis Viral invasion likely a result not a cause of disease
2- Predisposition Mutations in the gene Ran-binding 2 (RANBP2) associated with familial or recurrent viral ANE.
Autosomal-dominant ANE due to missense mutations in RANBP2 Hepatic and/or renal dysfunction
3- cytokine storm proinflammatory cytokines
interleukin (IL)-6, IL-1b, tumor necrosis factor (TNF)-a, soluble TNF receptor IL-6 level was correlated with worse prognosis IL-6 and TNF-a -> apoptosis & injury of vascular endothelium, glial cells, and neurons,
-> vascular lesions and breakdown of the blood–brain barrier (BBB) -> induce brain edema and damage, CNS disorders, and/or systemic symptoms
Other cytokines/chemokines CXCL8/IL-8, CCL2/MCP-1, and CXCL10/IP-10
Investigations - Bloods
Various abnormal findings
Elevation of serum aminotransferases and lactic dehydrogenase indicates liver dysfunction
Elevation of creatine kinase, urea nitrogen and amylase indicates concomitant involvement of the muscles, kidneys and pancreas respectively.
Investigations - Imaging
Bilaterally symmetric lesions of the thalami ± lateral putamin & external capsule, tegmentum,
cerebellar nuclei
The lesions are often necrotic and hemorrhagic.
Diffusion-weighted imaging (DWI) -> cytotoxic edema.
Axial T2-weighted image showing bilaterally symmetric hyperintensity in the thalami. Note the target appearance of the lesions.
Axial T2-weighted image showing bilaterally symmetric hyperintensity in the dorsal pons. Coronal FLAIR images showing bilaterally symmetric hyperintensity in the thalami and dorsal columns.
BACK TO OUR PATIENT
Methylprednisolone 30mg q24hrs.
Mannitol at a 0.5g/kg q6 hour Serum osm goal ~ 320.
3% hypertonic saline Na goal high 140 and low 150 range.
NO HYPOTHERMIA PROTOCOL
Patient died on Hospital day 8 (diffuse cerebral edema) Autopsy: Diffuse brain edema, simplified broad gyri and friable brain
parenchyma consistent with multifocal bilateral hemorrhagic and ischemic strokes (pending examination after fixation).
References
1: Neilson DE. The interplay of infection and genetics in acute necrotizing encephalopathy. Curr Opin Pediatr. 2010 Dec;22(6):751-7. Review. PubMed PMID:21610332.
2: Wang GF, Li W, Li K. Acute encephalopathy and encephalitis caused by influenza virus infection. Curr Opin Neurol. 2010 Jun;23(3):305-11. Review. PubMed PMID: 20455276.
3: Mizuguchi M, Yamanouchi H, Ichiyama T, Shiomi M. Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand Suppl. 2007;186:45-56. Review. PubMed PMID: 17784537.
4: Mastroyianni SD, Gionnis D, Voudris K, Skardoutsou A, Mizuguchi M. Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review. J Child Neurol. 2006 Oct;21(10):872-9. Review.PubMed PMID: 17005104.
5: Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev. 1997 Mar;19(2):81-92. Review. PubMed PMID: 9105653.
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