Related Experiment Video
Updated: Jul 4, 2025
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
Published on: October 14, 2021
Case 321: Leigh Syndrome
Bilal Hai1, Jonathan Guntin1, Anil G Rao1
1From the Department of Radiology, University of Illinois Hospital and Health Sciences System, 1740 W Taylor St, Chicago, IL 60612.
Insights
This case study highlights a 9-month-old infant with developmental regression and seizures, likely due to a rare metabolic disorder affecting brain function. Early diagnosis and intervention are crucial for managing such neurological conditions.
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Metabolic Disorders
Background:
- A 9-month-old preterm infant exhibited a 2-month history of developmental regression, including loss of social interaction and motor skills.
- The infant experienced recurrent seizures characterized by opisthotonos and cyanosis, alongside hypotonia noted on examination.
Purpose of the Study:
- To investigate the underlying cause of developmental decline and seizures in a preterm infant.
- To evaluate the diagnostic utility of neuroimaging and metabolic testing in complex pediatric neurological cases.
Main Methods:
- Clinical history and physical examination.
- Electroencephalography (EEG) to assess seizure activity.
- Brain Magnetic Resonance Imaging (MRI) with spectroscopy for structural and metabolic evaluation.
- Review of past and recent laboratory findings, including serum lactate, alanine, and citrulline levels.
Main Results:
- EEG revealed frequent bilateral parietal epileptiform discharges, indicating significant brain dysfunction.
- Persistent elevation of serum lactate and alanine levels suggested an underlying metabolic derangement.
- Previous low citrulline levels at birth, initially attributed to other causes, were re-evaluated in light of new findings.
Conclusions:
- The infant's presentation points towards a complex metabolic disorder impacting neurological development and function.
- Further investigation, including advanced metabolic and genetic testing, is warranted to identify the specific diagnosis.
- Prompt initiation of symptomatic treatment, such as lacosamide for seizures, is essential while pursuing definitive diagnosis.
History:
A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact. The parents also reported that the infant had multiple seizures during which he would wake up stiff and stare into space for 10-20 seconds while his lips would become blue. The parents were referred to a neurologist, where physical examination was notable for hypotonia. Electroencephalography (EEG) revealed frequent bilateral parietal epileptiform discharges. The patient was subsequently started on lacosamide. The patient's medical history was notable for abnormally low citrulline levels at birth, with negative results of urea cycle disorder testing at the time, along with left inguinal hernia repair performed 3 months ago. More recent laboratory analysis had shown persistently elevated serum lactate and alanine levels. There was no history of travel, recent infection, or vaccine administration. MRI of the brain with spectroscopy was performed for further evaluation.
Related Concept Videos
01:33Pleiotropy
01:20Inborn Errors of Metabolism
01:17Karyotyping
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:18ATP Synthase: Structure