نویسنده: دکتر پروانه کریم زاده

Neurological manifestations are the prominent signs and symptoms of neurometabolic diseases, an important group of hereditary disorders. Global neurodevelopmental delay is the first symptom in many patients. Seizure is also a common neurological sign, which is often refractory to anti-seizure medications if the underlying disease is not treated. Neurometabolic disorders mostly present in newborns and infants with severe clinical manifestations, including poor feeding, vomiting, lethargy, seizures, and loss of consciousness during metabolic decompensation. Although these presentations are often fatal, severe neurological insult and regression of neurodevelopmental milestones are prominent signs in surviving patients. Therefore, it is important to treat the acute symptoms immediately, regardless of the cause.

In the late infantile period and childhood, symptoms of neurometabolic disorders normally develop after an interval of normal or near normal growth and development. These children, without early diagnosis and treatment, may experience recurrent episodes of vomiting, lethargy, and loss of consciousness due to environmental stresses, such as upper respiratory tract infection, vaccination, and surgery. Also, children may show regression in motor and mental skills after one or two years. A number of patients with neurometabolic disease respond remarkably well to appropriate treatment. Therefore, early detection and intervention can be invaluable in some cases to prevent catabolism and to promote normal or near normal neurodevelopmental milestones.

Authored by a pediatric neurologist, this atlas discusses different neurometabolic disorders and presents an introduction to their clinical and neurological manifestations, case presentations, imaging findings, laboratory studies, neuroimaging results, and electroencephalography (EEG) data. Pediatric neurologists, pediatric endocrinologists, medical interns, and medical students can find common neurometabolic disorders, along with case presentations and imaging findings in different chapters of this book.