Paul D. Larsen

Congenital lymphocytic choriomeningitis virus infection : Spectrum of disease

Lymphocytic choriomeningitis virus (LCMV) is a human pathogen and an emerging neuroteratogen. When the infection occurs during pregnancy, the virus can target and damage the fetal brain and retina. We examined the spectrum of clinical presentations, neuroimaging findings, and clinical outcomes of children with congenital LCMV infection.

Cerebral arteriovenous malformation in three successive generations

We report a kindred with cerebral arteriovenous malformations in three generations, suggesting autosomal dominant inheritance in this family. Screening asymptomatic persons with a family history for cerebral arteriovenous malformations is discussed.

The protective effect of brachial plexus palsy in purpura fulminans

Acute infectious purpura fulminans is reported in a 16-month-old male with a history of posttraumatic asplenia and complete left brachial plexus palsy. This patient developed peripheral necrosis of both lower extremities and the right upper extremity, whereas the left upper extremity was completely spared from ischemia and tissue damage. Amputation of four digits on the right hand and debridement of both lower extremities were required. This patient demonstrated the protective effect of a traumatic sympathectomy, which suggests the requirement of an intact sympathetic reflex in the development of purpura fulminans.

Ophthalmoscopy using an eye simulator model

Ophthalmoscopy is an important skill for the medical student to master. Students have difficulty visualising the retina, and are hesitant to practise with patients. Our study aim was to demonstrate that an eye simulation experience would be beneficial for developing ophthalmoscopy skills.

Diverse Presentation of Breath Holding Spells: Two Case Reports with Literature Review

Breath holding spells are a common and dramatic form of syncope and anoxic seizure in infancy. They are usually triggered by an emotional stimuli or minor trauma. Based on the color change, they are classified into 3 types, cyanotic, pallid, and mixed. Pallid breath holding spells result from exaggerated, vagally-mediated cardiac inhibition, whereas the more common, cyanotic breathholding spells are of more complex pathogenesis which is not completely understood. A detailed and accurate history is the mainstay of diagnosis. An EKG should be strongly considered to rule out long QT syndrome. Spontaneous resolution of breath-holding spells is usually seen, without any adverse developmental and intellectual sequelae. Rare cases of status epilepticus, prolonged asystole, and sudden death have been reported. Reassurance and education is the mainstay of therapy. Occasionally, pharmacologic intervention with iron, piracetam; atropine may be of benefit. Here we present 2 cases, one of each, pallid and cyanotic breath holding spells.

Hypernatremic dehydration with hemorrhage into the choroid plexus.

A 2 1/2-month-old patient is reported with computed tomographic evidence of bilateral choroid plexus hemorrhage associated with hypernatremic dehydration. Choroid plexus hemorrhage may have caused increased cerebrospinal fluid protein observed in hypernatremic dehydration, as well as intraventricular hemorrhage.

Choking at Night: A Case of Opercular Nocturnal Frontal Lobe Epilepsy

Frontal lobe seizures have a tendency to occur in sleep and in most cases occur exclusively in sleep; these individuals are said to have nocturnal frontal lobe (NFLE). NFLE can be difficult to distinguish clinically from various other sleep disorders, particularly parasomnias, which also present with paroxysmal motor activity in sleep. Interictal and ictal EEG findings are frequently unremarkable or nonspecific in both parasomnias and NFLE making the diagnosis even more difficult. Nocturnal epilepsy should be suspected in patients with paroxysmal events at night characterized by high frequency, repetition, extrapyramidal features, and marked stereotypy of attacks. Here we present a 13-year-old female who was extensively worked up for choking episodes at night. On repeat video EEG she was found to have frontal opercular seizures. Once on Carbamazepine, her seizures completely resolved.

Odyssey of a pediatric neurologist in medical neuroscience teaching.

Received Aug 19, 2003. Accepted for publication Aug 26, 2003. From the Division of Pediatric Neurology, University of Nebraska College of Medicine, Omaha, NE. Address correspondence to Dr Paul D. Larsen, Department of Pediatrics, University of Nebraska College of Medicine, 985165 Nebraska Medical Center, Omaha, NE 68198-5165. Tel: 402-559-9539; fax: 402-599-5763; e-mail: pdlarsen@unmc.edu. Odyssey-a long wandering or voyage usually marked by many changes of fortune, an intellectual or spiritual wandering or quest. Webster’s New Collegiate Dictionary

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Friedreichs ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreichs ataxia and nonsense mutations are a further rarity among point mutations. We report a rare compound heterozygous Friedrichs ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other. We summarize the four previously published cases of nonsense mutations and compare the phenotype to that of our patient. We compared clinical information from our patient with other nonsense FXN mutations reported in the literature. This nonsense mutation, to our knowledge, has only been described once previously; interestingly the individual was also of Cuban ancestry. A comparison with previously published cases of nonsense mutations demonstrates some common clinical characteristics.

Occipital Bony Abnormality and Multiple Strokes in a Pediatric Patient Case Report and Review of the Current Literature

This study presents a case of a 15-year-old boy who had a right vertebral artery dissection with distal embolization from repeated trauma from an occipital bony spicule. The authors hypothesize that this bony spicule was contacting the left vertebral artery during head rotation, resulting in trauma to the vessel and formation of emboli which then showered distally, causing strokes in the posterior circulation of the brain. This specific phenomenon has previously been reported three times, only one of which was in pediatric literature. It is important for individuals to be aware of this rare anatomic cause of vertebral artery dissection in patients presenting with an odd constellation of symptoms related to strokes from vertebro-basilar system. Treatment options including early intervention with intravascular coil embolization are also discussed.