Jens Wrogemann

Arterial Ischemic Stroke in an Adolescent With Presumed Perinatal Ischemic Stroke

The risk of recurrent ischemic stroke after presumed perinatal stroke and the risk factors for such recurrence are rarely reported. Here, we present an adolescent with a history of presumed perinatal stroke who presented with arterial ischemic stroke recurrence at the age of 15 years. Hereditary thrombophilia screening performed at the time of his stroke recurrence demonstrated protein S deficiency. No evidence-based consensus guidelines on thrombophilia screening in children with presumed perinatal stroke exist, nor has the role of secondary prophylaxis been addressed. There is a risk of stroke recurrence after presumed perinatal stroke, and routine thrombophilia screening may identify those children who are at higher risk for recurrence and who might therefore benefit from secondary prophylaxis. Clear guidelines should be developed to standardize investigations and management of children with presumed perinatal ischemic stroke.

Recurrent acute necrotizing encephalopathy in a canadian aboriginal child.

originally described in the Far East.1,2 Disease onset is commonly preceded by a viral illness.1,3 Neurological deterioration occurs abruptly and rapidly. Neuroimaging is characteristic.4 Steroids and less commonly intravenous immunoglobulins have been used with variable outcomes.5 More recently, cases have been reported from Europe and North America.3,6,7 Here we present the first report of recurrent ANE in a Canadian Aboriginal child.

Recurrent Posterior Circulation Stroke in an Infant With Basilar Artery Aneurysm

Arterial ischemic stroke involving the posterior circulation is uncommon in children. The underlying etiologies and risk factors predisposing to posterior circulation stroke include vasculopathies, intracranial trauma, cardiac disease, infection, and hematologic disorders. However, in many children with posterior circulation stroke, the underlying mechanisms are poorly understood. We describe a 14-month-old infant with recurrent arterial ischemic stroke involving the posterior circulation secondary to an aneurysm of the basilar artery.

A Rare Cause of Chronic Constipation

DIS 5.4.0 DTD YGAST60277 proof 24 March 2016 4:21 am ce Gastr 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 Question: An otherwise healthy 7-yearold boy presented to the gastroenterology clinic with a history of longstanding constipation and encopresis. The past medical history was significant for an intermediate level anal bar causing an imperforate anus, requiring a minor anoplasty in the neonatal period. The family and pregnancy history were noncontributory. A stool mass could be palpated on abdominal physical examination and an abdominal radiograph identified a moderate amount of 97 98 99 100 101 stool in the colon and absence of the right lower sacrum resulting in a “sickle”-shaped sacrum (Figure A). This was confirmed by magnetic resonance imaging (MRI), which also revealed a small, heterogeneous, presacral mass (Figure B). What is the diagnosis? Look on page 000 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. 102 103 104 105 106 107 108 Conflicts of interest The authors disclose no conflicts.

Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts

Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

Diffuse Bacterial Meningitis and Myelitis Secondary to a Diplococcus Organism.

A 16-year-old, previously healthy, female presented with a 1-week history of sore throat, fever, vomiting, and occipital headache. She also complained of generalized myalgia and lower limb weakness. There was no medication or substance use. Her immunizations were up to date, and she had no recent travel history or contact with persons from overseas. Examination in emergency revealed an unwell girl with nuchal rigidity and generalized hyperesthesia. Muscle strength in the lower extremities was graded 3−/5. In the upper extremities, strength was graded 4+/5 except distally on the right side, which was graded 4−/5 with scooping fingers and difficulty with extension of fingers, along with weak wrist flexion. Sitting was noted to be difficult. Reflexes were decreased in the lower limbs; brisk reflexes were found in the upper limbs. Initial magnetic resonance imaging (MRI) showed extensive T2 signal changes throughout the spinal cord (Figure 1A,B). MRI of the brain did not reveal any significant intracranial abnormality. Initial differential diagnosis included demyelinating myelitis from an infectious, postinfectious, or inflammatory process. Infarction and neoplastic infiltration of the spinal cord were also considered. Her cerebrospinal fluid (CSF) had increased protein (2.29 g/L), lactate (4.2 mmol/L), cell count 840 × 10/L (neutrophils, 39; lymphocytes, 53; monocytes/macrophages, 8) and normal glucose (2.5 mmol/L). A CSF Gram stain revealed gram-negative diplococci versus coccobacilli (orientation of organism unclear). Blood and CSF cultures were obtained before treatment with intravenous cefotaxime and vancomycin at meningitic doses and dexamethasone (7.5 mg every 6 hours). Overnight, she developed progressive flaccid paralysis of extremities; cefotaxime was switched to ceftriaxone and dexamethasone was switched to daily methylprednisone (1 g for 5 days) followed by oral prednisone (1 g/kg) in tapering doses over 20 days. She demonstrated gradual improvement of her extremity weakness. Repeat MRI showed minimal interval improvement (Figure 2). CSF and blood cultures yielded negative results, as did CFS analysis using 16S RNA PCR. CFS, stool, and nasopharyngeal secretion viral cultures (including polio virus) revealed no causative organism. She was treated with 14 days of antibiotics for presumed bacterial meningitis resulting from either Neisseria meningitidis or Haemophilus influenzae, based on the initial CSF Gram stain. Follow-up MRI 1 month after presentation revealed improvements, with minor residual inflammation/demyelination seen within the cervical/thoracic spinal cord (Figure 3). Two months after her presentation, she was ambulating with cane assistance. A repeat MRI 9 months after presentation showed resolution of abnormal findings. Follow-up 11 months after presentation showed almost complete neurological recovery, with only mild residual bowel and bladder dysfunction.

Response to Correspondence on “Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts”

We thank Dr Yiş for his interest and comments on our case report. When we initially assessed our patient, we did consider and did discuss the possibility that our patient could have one of the a-dystroglycanopathies. Because our patient’s brain magnetic resonance imaging (MRI) unequivocally showed classic lissencephaly rather than cobblestone complex (formally called lissencephaly type II), we did not pursue the possibility of an a-dystroglycanopathy further. We reviewed in detail two of the references suggested in Dr Yiş’s letter. Both references clearly state that the brain MRI findings in a-dystroglycanopathies are associated with cobblestone complex rather than classic lissencephaly. We found several other articles that also supported this distinction. In conclusion, our patient had classic lissencephaly on brain MRI, which has not been reported to be associated with one of the a-dystroglycanopathies.

Claude Syndrome 'Plus' in an Adolescent

A 13-year-old boy presented to the pediatric emergency department with a five-day history of headache, vomiting and double vision. He had previously been well. He was not on any medications. His birth, developmental and family history was unremarkable. He resided with his family in rural Manitoba, Canada. On examination he was fully oriented. His GCS was 15. His general examination was unremarkable. His blood pressure was 131/ 77 and heart rate 67 beats per minute. On inspection, he had a left head tilt and left-sided ptosis. His palpebral fissure width, with the eyes in primary position, measured 8 mm on the right and 5 mm on the left. His best-corrected monocular near visual acuity was 20/20 on the right and 20/30-2 on the left, using a pinhole. With his glasses, his near visual acuity was 20/30 on the right and 20/200 on the left. His visual fields were full on confrontation. His right pupil was 3 mm and left pupil was 4 mm in diameter in the light. The left pupil was minimally reactive to direct and indirect light, while the right pupil reacted sluggishly and partially to direct and indirect light (i.e., the left pupil was less responsive to stimulation with light than the right pupil). Extraocular movements of the left eye were restricted to 20% of normal on upgaze, 30% on downgaze, 80% on adduction, but Claude Syndrome ‘Plus’ in an Adolescent