Transcript BC Dr. Olawaiye

GH
Clincopathologic Conference (CPC)
1/15/16
Neurology Resident: Jody Manners
Pathologist: Geoffrey Murdoch
History
• HPI: Girl born at 39 weeks 2 days to G2P1 on
10/30/15, diagnosed prenatally with double outlet
right ventricle
• IUGR, 2.13 kg, Apgar 8/8
• Sats 40s% on RA; placed on NC O2
• UVC placed and started on PGE at OSH, transferred
to CHP where she was started on dopamine,
milrinone
Cardiac Anatomy:
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TTE 10/30/15:
Large VSD with aortic override
MV atresia
Moderate size secundum ASD
with left to right flow
Probable pulmonary atresia
Moderate size, tortuous PDA with
left to right shunt
Moderately hypoplastic LV
Moderately dilated RV; normal EF
Examination
• HEENT: Unusual shaped head with trigoncephaly, very
prominent glabella and nasal root/bridge, narrowing spaced
eyes with upslanting palpebral fissures, high palate, dysplastic
ears. Palate intact.
• CV: Loud holosystolic murmur
• MSK: Normal muscle bulk. Single palmar crease. Rocker
bottom feet, acrocyanosis.
• Neurologic: Alert and moving all extremities, fussy with exam.
Genetics Evaluation
• ?Wolf-Hirschhorn Syndrome
in light of prominent glabella
• Maternal microarray
chromosome analysis
notable for variant of
uncertain significant on Chr 1
• Karyotype normal (no
trisomy)
• Microarray/FISH normal.
Ophthalmology Evaluation
• Metopic craniosynostosis with ridge and
secondary relative hypotelorism
• Age appropriate eye exam
Brief Hospital Course
• Initially on NC, goal sats 75-85%
• Continued on PGE for ductal dependent flow
• Increased work of breathing overnight 11/1 ->
HFNC, later intubated for OR
• Discussion of best palliation cardiac surgery…
limited by small size, anatomy
Brief Hospital Course
• CICU and NICU care 10/30 to 12/31
• Patient was transferred to CHP and underwent balloon septoplasty
11/10/15, central shunt placement 11/11/15 from ascending aorta to
MPA. Post-Op: ST changes; cath showed patent shunt.
• 11/13/15: VT arrest, CPR x 4 minutes
• 11/30/15 developed chylothorax; NPO x1 month
• Multiple extubation failures; s/p trach 12/22/15
• TTE 12/27: Worsening LV, RV function
• Repeat cardiac cath 12/29/15 after desaturations: PVR 4 indexed units,
Qp:Qs 0.8/1, mild narrowing at distal end of central shunt
• To OR 12/29 for central shunt take down; 6.0mm RV to PA conduit, TV
annuloplasty, atrial septectomy, and central ECMO cannulation
• 12/31/15 ECMO decannulation, chest closure. Started on iNO.
• Labile condition throughout 12/31; withdrawal of therapy later that day.
Radiology
• Brain US 10/30/15: (date of birth) Normal ventricular size,
brain morphology and parenchymal echogenicity
Radiology
• MRI brain 11/06/15: Microcephaly. No acute
intracranial abnormality.
Radiology
• Head ultrasound 11/13 after cardiac arrest:
Suspected intraventricular hemorrhage in left
occipital horn of later ventricle, however not
seen on later US
• Head ultrasound 12/8 after HD instability:
Increase in size of lateral ventricles
Radiology
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CTH 12/9/15:
Grade 1 left germinal matrix hemorrhage
0.5cm superior left parietal hemorrhage
Ventricular enlargement
Metopic Craniosynostosis
• Metopic suture connects anterior fontanel down forehead to
nose
• Premature closure, changing growth pattern of skull
• “Trigonocephaly” – Skull can appear triangular
Metopic Craniosynostosis
• 1:5200 newborns
• Unknown etiology; bone malformation vs.
fetal head constraint vs. intrinsic brain
malformation
• Linked with neurodevelopmental delays;
greater occurrence than with other single
suture synostoses
Microcephaly
• Occipito-frontal circumference (OFC) < 2 SDs below mean for
age/gender
• “Primary” – isolated microcephaly without other major brain or somatic
malformation
• Can occur with other types of brain malformations – holoprosencephaly,
cerebellar hypoplasia, lissencephally, diffuse polymicrogyria
• Subtle macroscopic changes: small cerebral volume, normal/minimally
altered convolution pattern, normal size of 3rd and lateral ventricles
• Heterogenous microscopic changes: reduced neurons with normal
thickness cortex vs. reduced layer I/2 neurons causing thin cortex
• Imaging: reduced gyri with shallow sulci, foreshortened frontal lobes,
mildly enlarged lateral ventricles, thin corpus callosum
Microcephaly
• Two mechanisms:
– Abnormal brain development; reduced neurons
during neurogenesis
– Injury to prior normal brain; reduced dendritic
processes, synaptic connections
References
• Swaiman’s Pediatric Neurology: Principles and Practice.
Chapter 25 Disorders of Brain Size. 2011.
• Practice Parameter: Evaluation of the child with microcephaly
(an evidence-based review). Ashwal, et al. Neurology 2009;
73:887-897
• Metopic synostosis. Van der Meulen, Jacques. Childs Nerv Syst
2012; 28(9); 1359-1367