50 Years Ago in The Journal of Pediatrics:
A Familial Convulsive Disorder with an Unusual Onset During Intrauterine Life
Article Outline
Badr El-Din MK. J Pediatr 1960;56:655-7
In 1960, Badr El-Din provided one of the first descriptions of intrauterine seizures by reporting the case of a female infant evaluated for clinical seizures that had begun in utero and continued after birth. The affected infant demonstrated progressive tonic-clonic seizures, myoclonus, hypertonicity, and neurodevelopmental delay, with death from status epilepticus at 16 months of age. Family history was significant for a similar phenotype in two siblings and multiple second-degree relatives. The patient's parents were first cousins, with numerous consanguineous unions between their two families. Diagnostic tools to investigate the etiology of these symptoms were limited. Because the clinical course was not consistent with previously described syndromes, the author concluded that these infants were affected with a novel autosomal recessive neurodegenerative disorder. Through his article, Badr El-Din brings attention to an underappreciated clinical symptom, intrauterine seizures, and highlights the importance of prenatal and family history in the evaluation of any infant with seizures in the neonatal period—important points that remain true today. He also underscores the need for additional diagnostic testing and emphasizes the tremendous familial burden of inherited neurodegenerative disorders.
Since the original publication, there have been additional reports of intrauterine seizures in the medical literature, including descriptions of ultrasonographic diagnosis of in utero events.1, 2 Significant advances have been made in the ability to accurately evaluate, diagnose, and manage conditions that present in this manner through the advent of new serum, cerebrospinal fluid, genetic, and neuroimaging techniques. The differential diagnosis has broadened to include a wide range of inherited and acquired structural and metabolic diseases. Family history remains fundamental to accurate diagnosis. Unfortunately, despite these advances, treatment options remain limited and incompletely effective. Prognosis in reported cases continues to be poor, with high rates of death and neurodevelopmental disability in affected infants. The impact of these conditions on patients and their families remains profound. Several of the fundamental points highlighted via the original article remain true today—intrauterine seizures are often incompletely appreciated, infants are typically severely affected with a poor prognosis, and approaches to the evaluation and treatment of these patients are incomplete. Though advances in medicine over the last 50 years have provided enhanced diagnostic methods, our efforts remain unfinished, with continued need for scientific investigation of the underlying structural, metabolic, and genetic causes of intrauterine seizures to focus our management and improve long term outcomes.
References
PII: S0022-3476(09)01308-0
doi:10.1016/j.jpeds.2009.12.048
© 2010 Published by Elsevier Inc.
