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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, A pgar 8/8
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GHClincopathologic 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: • 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 • 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 • Heterogenousmicroscopic 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 NervSyst 2012; 28(9); 1359-1367