Neurological, behavioral, and MRI examinations of a group of children and adolescents with Sanfilippo syndrome in Brazil show increased disease severity with age consistent with progressive brain lesions, according to a new study. I got
As children grew older, changes in all areas increased in prevalence, researchers say in detailed findings.
The team concluded that careful neurological, behavioral, and imaging assessments may help classify disease progression in Sanfilippo syndrome.
Furthermore, “a better understanding of neurological symptoms, particularly in behavior and epilepsy, may allow for better symptom management and improved morbidity,” they wrote.
The survey results were published in a magazine The forefront of neurology in the investigation,”Neurological, neurobehavioral, and radiological changes in a Brazilian patient with mucopolysaccharidosis III (Sanfilippo syndrome)“
Additions to Data on Disease Severity and Progression in Sanfilippo Syndrome
Sanfilippo syndrome is a rare childhood disorder characterized by delayed development of language specifically, followed by behavioral changes, sleep disturbances, movement disorders, dysphagia, and epilepsy.
This condition is caused by a genetic defect in the enzyme required to break down heparan sulfate, a complex sugar molecule found throughout the body and involved in a wide range of biological functions. Without the ability to break it down, heparan sulfate accumulates to harmful levels inside cells, leading to tissue damage, especially in the brain.
Although many of the features of the disorder have been described, researchers note that “little literature from developing countries” regarding the progressive disease and its severity exists.
“The current study aims to build a comprehensive understanding of neurological, neurobehavioral, and radiological research. [imaging] Changes in children and adolescents [Sanfilippo] We visited the largest children’s hospital in Brazil,” they wrote.
The team reported on 10 Sanfilippo cases from 8 unrelated families, including 6 male patients and 4 female patients.
When measured in 6 patients, urinary levels of glycosaminoglycans, of which heparan sulfate is a member, were found to be elevated in 5 (83%). A known condition, excessively large heads, occurred in half of the participants.
Five patients underwent genetic testing.mutation found SGSH Genes, causes of Sanfilippo type A — the most common type of disorder — and Nagle Genes associated with Sanfilippo type B. One individual had a variant of unknown significance. This implies that a variant was found in the patient, but its function is still unknown.
Most participants reached the expected motor milestones, but delays in walking without assistance frequently occurred, and all but two patients showed delays in language development. One patient had aggression, another had autistic features, and a third had attention-deficit/hyperactivity disorder (ADHD).
All but two developed severe intellectual disability during follow-up, limiting their ability to communicate. These patients were completely dependent on others for assistance with daily living.
A better understanding of neurological symptoms, especially in behavior and epilepsy, may enable better symptom management and improved morbidity
Of the patients evaluated, 6 (60%) had epilepsy, 4 of whom had their first seizure between 2 and 4 years of age. One of her 15-year-olds was San Filippo type C.
Seizure frequency increased with age, affecting approximately 40% by age 3, and those affected were treated with anti-seizure medications.
Electroencephalography (EEG) tests to measure brain electrical activity were within normal limits for the ages of the three patients. All were under the age of eight he was. Of these, two showed EEG abnormalities during follow-up. Others had abnormal EEG findings. All three had epilepsy and displayed epileptiform activity, ie, EEG signals occurring during and between seizures.
Cortical atrophy, the progressive loss of the outer layer of the brain (cortex), was seen in 5 of 7 patients (71%) evaluated according to MRI scans. All but one he was 6 years old or older.
White matter changes were found in four patients, another four had skull thickening, and three showed enlargement of fluid-filled spaces in the brain, and were not related to age or mutations. The researchers noted: Spinal stenosis, narrowing of the space within the spine, was seen in two cases.
“Neurologic, neurobehavioral, and radiological changes [Sanfilippo syndrome] Patients increased in prevalence and severity with age and correlated with progressive neurological involvement,” the researchers concluded.
“Careful neurological assessment correlating with radiological and electrophysiological studies may allow stratification. [classification] of disease progression in [Sanfilippo syndrome]’ they added.
