McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders
We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and electromyography revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a neurogenetics clinic team. Whole-exome sequencing was selected as a first tier test. This testing revealed a known disease causing mutation in the PYGM gene consistent with McArdle disease. We discuss the decision to use whole-exome sequencing in diagnostics and the rationale for making this our choice as a first-level test modality. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: William D. Walters, Adolfo D. Garnica, Gerald Bradley Schaefer Source Type: research
Facial Weakness and Ophthalmoplegia in a 4-Day-Old Infant
We present a neonate with neurologic deficits recognized at 4 days of age. A male infant was born at term via emergency cesarian section due to failure to progress and fetal decelerations. He underwent therapeutic hypothermia for hypoxic ischemic encephalopathy. Upon completion of rewarming, he was noted to have left facial palsy, abduction deficit on the left eye past the midline, and nystagmus involving the right eye. Brain magnetic resonance imaging showed a pontine stroke, and computed tomography angiogram revealed basilar artery thrombosis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Ioanna Kouri, Katherine Mathews, Charuta Joshi Source Type: research
Infantile-Onset Myelin Protein Zero –Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia
We describe an infant with an early-onset demyelinating neuropathy who presented with an upper extremity monoplegia and progressive asymmetric weakness. Neurophysiologic testing revealed a generalized severe neuropathy with marked slowing of nerve conduction. The disproportionate severity and asymmetry of upper extremity involvement at presentation was atypical of inherited neuropathies, and an initial diagnosis of chronic inflammatory demyelinating polyneuropathy was considered. Nerve biopsy showed severe depletion of large myelinated fibers without inflammatory cells, and focally folded myelin sheaths were seen on electr...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eppie M. Yiu, Jithangi Wanigasinghe, Mark T. Mackay, Michael Gonzales, Garth A. Nicholson, Monique M. Ryan Source Type: research
Elevated CK in a 6-Year-Old Boy
Pauci- or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be non-specific and heterogeneous. Clinical manifestations can appear at any age after 2 years old and before adulthood, with insidious onset of symptoms related to slowly progressive skeletal or respiratory muscle weakness. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eunice K Chan, Andrew J Kornberg Tags: Case Studies issue Source Type: research
McArdle disease presenting with muscle pain in a teenage girl: The role of whole exome sequencing in neuro-genetic disorders
We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and EMG revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a Neuro-genetics Clinic team. Whole exome sequencing was selected as a first tier test. This testing revealed a known disease causing mutation in the PYGM gene consistent with McArdle disease. We discuss the decision to use whole exome sequencing in diagnostics and the rationale for making this our choice as a first level test modality (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: William D Walters, Adolfo D. Garnica, G. Bradley Schaefer Source Type: research
Infantile Onset myelin protein zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia
We describe an infant with an early-onset demyelinating neuropathy who presented with an upper extremity monoplegia and progressive asymmetric weakness. Neurophysiologic testing revealed a generalized severe neuropathy with marked slowing of nerve conduction. The disproportionate severity and asymmetry of upper extremity involvement at presentation was atypical of inherited neuropathies, and an initial diagnosis of chronic inflammatory demyelinating polyneuropathy was considered. Nerve biopsy showed severe depletion of large myelinated fibers without inflammatory cells, and focally folded myelin sheaths were seen on electr...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eppie M Yiu, Jithangi Wanigasinghe, Mark T Mackay, Michael Gonzales, Garth A Nicholson, Monique M Ryan Source Type: research
Consideration of genetic diagnoses of developmental delay in children of consanguineous families
We present 3 cases wherein children of consanguineous parents presented to the pediatric neurology clinic for evaluation and potential diagnosis of the cause of global developmental delay. The outcome of the investigations in each case d emonstrate the need to follow established guidelines for appropriate genetic testing as they pertain to the patient′s presentation rather than a single element of the history (ie. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Salva Sadeghi, Michael Shevell Source Type: research
Facial weakness and ophthalmoplegia in a 4-day old infant
We present a neonate with neurologic deficits recognized at 4 days of age. A male infant was born at term via emergency caesarian section due to failure to progress and fetal decelerations. He underwent therapeutic hypothermia for hypoxic ischemic encephalopathy. Upon completion of rewarming, he was noted to have left facial palsy, abduction deficit on the left eye past the midline and nystagmus involving the right eye. Brain MRI showed a pontine stroke and CT angiogram revealed basilar artery thrombosis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Ioanna Kouri, Katherine Mathews, Charuta Joshi Source Type: research
Focal epilepsy in a teenager with facial atrophy and hair loss
We present a case highlighting the clinical presentation of a 12-year-old boy with focal seizures and physical exam findings of facial atrophy and hair loss. This paper reviews the literature related to the presentation, epidemiology, diagnosis and treatment of Parry-Romberg syndrome and linear scleroderma en coupe de sabre with focus on the significant correlation with neurologic disease, particularly seizures. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Stephen W. English, Mai Lan Ho, Megha M. Tollefson, Lily C. Wong-Kisiel Source Type: research
Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathological Laughter and Crying
Pseudo-bulbar affect (PBA), ie. pathological laughter and crying is being increasingly recognized in adults and is seen in association with a number of diseases like Parkinson disease, dementia, traumatic encephalopathy and others but has not previously been described in children with cerebral palsy CP. The condition (PBA) may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report two children with CP who have structural cerebellar injury as a result of their being born extremely premature who have pathological crying and probably laughter. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research
A quiet disease with loud manifestations
We present a 15 month-old girl with progressive sensorineural hearing loss and developmental delays. Magnetic resonance imaging (MRI) of her brain was done by her otolaryngologist as part of a routine cochlear implant evaluation where it was drastically abnormal and reported as a likely leukodystrophy; subsequently found to be related to congenital CMV on further evaluation. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Benjamin Louis Moresco, Melissa Dziuk Svoboda, Yu-Tze Ng Source Type: research
A Boy with Red Ears
Vague complaints of ear pain can bring frustration in the neurology office as the differential is broad and often non-neurologic. Herein we present a case of red ear syndrome, a treatable migraine variant that can cause significant distress and lead to delayed treatment if not considered as a diagnostic possibility. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Juliana Coleman, Margie A. Ream Source Type: research
“Cerebral Palsy” in a Patient with Arginase Deficiency
Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume children will be diagnosed in their first months of life. However, certain IEMs present more insidiously and occasionally children fail to receive newborn screening resulting in delayed diagnoses as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. While signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child ′s diet and neurologic medical history,...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Amanda Jichlinski, Lindsay Clarke, Matthew Whitehead, Andrea Gropman Source Type: research
Hypothalamic Hamartoma with Infantile Spasms: Case Report with Surgical Treatment
We report a 10 month-old boy with treatment-resistant infantile spasms associated with hypothalamic hamartoma (HH). EEG prior to surgical treatment showed modified hypsarrhythmia. Transventricular endoscopic resection and disconnection resulted in immediate and enduring disappearance of the epileptic spasms and improvement in the post-operative EEG. Eight years after treatment the patient has non-disabling gelastic seizures associated with a small amount of residual HH but no other seizure types. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Jordana Fox, Shaun Hussain, Raman Sankar, John F. Kerrigan Source Type: research
A Two-Year-Old Boy with Difficulty Waking after Bone Marrow Transplantation
We report a two-year-old boy who was evaluated for difficult waking during prolonged ICU admission associated with bone marrow transplant for Wiskott Aldrich Syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and arreflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albumino-cytologic dissociation suggestive of Guillain-Barre Syndrome/acute motor and sensory axonal neuropathy variant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eileen Broomall, J. Michael Taylor, Katrina Peariso Tags: Case Studies issue Source Type: research
