Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathologic Laughter and Crying
Pseudobulbar affect, that is, pathologic 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. The condition pseudobulbar affect may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report 2 children with cerebral palsy who have structural cerebellar injury because of their being born extremely premature who have pathologic 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 case of a 15-month-old girl with progressive sensorineural hearing loss and developmental delays. Magnetic resonance imaging of her brain was done by her otolaryngologist as part of a routine cochlear implant evaluation where it was found to be drastically abnormal and reported as a likely leukodystrophy. (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 nonneurologic. 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 that 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. Although signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child ’s diet and neurologic medica...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Amanda Jichlinski, Lindsay Clarke, Matthew T. 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). Electroencephalography before surgical treatment showed modified hypsarrhythmia. Transventricular endoscopic resection and disconnection resulted in immediate and enduring disappearance of the epileptic spasms and improvement in the postoperative electroencephalography. After 8 years of treatment, the patient has nondisabling 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 2-Year-Old Boy With Difficulty Waking After Bone Marrow Transplantation
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit 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 areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albuminocytologic dissociation suggestive of Guillain-Barre syndrome or 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, John Michael Taylor, Katrina Peariso Source Type: research
A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma
A 15-year-old girl with history of medulloblastoma was evaluated for headache and neurologic deficits 5 years after completion of initial radiation therapy and 3 years following completion of reirradiation. Neurologic examination was notable for new-onset left hemianopia, hemiparesis, and neglect. Magnetic resonance imaging showed extensive areas of cortical T2 prolongation and thickening involving the right parietal, occipital, and temporal lobes with associated extensive gyral enhancement. Upon spontaneous resolution of her weakness after 4 days, repeat magnetic resonance imaging showed resolution of the edema and gyral ...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Elizabeth Duke, Nicole J. Ullrich Source Type: research
A 15-Month-Old Girl Presenting With Clitoromegaly and a Chest Mass
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass that tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurologic examination was normal. Magnetic resonance imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion, or nerve sheath tumor. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Courtney Darcy, Nicole J. Ullrich Source Type: research
Multifocal Brain Lesions With Extensive Perilesional Edema in a Young Boy Returning From Kenya
We report the case of an 8-year-old boy who presented with headaches, optic disc edema, and left eye esotropia. He had recently returned to the United States after living in Kenya for approximately 3 years. His brain magnetic resonance imaging showed multifocal lesions with significant perilesional edema seemingly out of proportion to his neurologic examination findings. With appropriate therapy there was remarkable improvement in his symptoms with reduction in size of the lesions and surrounding edema. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Kelsey Merison, Jorge Vidaurre Source Type: research
Intracranial Calcifications in Young Children
We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Sarah L. Dugan, Lorenzo D. Botto, Gary L. Hedlund, James F. Bale Source Type: research
Elevated Creatine Kinase in a 6-Year-Old Boy
Paucisymptomatic 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 nonspecific and heterogeneous. Clinical manifestations can appear at any age after 2 years 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 Source Type: research
A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma
A 15-year-old girl with history of medulloblastoma was evaluated for headache and neurologic deficits 5 years after completion of initial radiation therapy and 3 years following completion of reirradiation. Neurologic examination was notable for new-onset left hemianopia, hemiparesis, and neglect. Magnetic resonance imaging showed extensive areas of cortical T2 prolongation and thickening involving the right parietal, occipital, and temporal lobes with associated extensive gyral enhancement. Upon spontaneous resolution of her weakness after 4 days, repeat magnetic resonance imaging showed resolution of the edema and gyral ...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Elizabeth Duke, Nicole J. Ullrich Source Type: research
Elevated Creatinine Kinase in a 6-Year-Old Boy
Paucisymptomatic 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 nonspecific and heterogeneous. Clinical manifestations can appear at any age after 2 years 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 Source Type: research
A 2-Year-Old Boy With Difficulty Waking After Bone Marrow Transplantation
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit 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 areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albuminocytologic dissociation suggestive of Guillain-Barre syndrome or 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, John Michael Taylor, Katrina Peariso Source Type: research
A 15-Month-Old Girl Presenting With Clitoromegaly and a Chest Mass
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass that tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurologic examination was normal. Magnetic resonance imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion, or nerve sheath tumor. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Courtney Darcy, Nicole J. Ullrich Source Type: research
