Ethical Considerations in Balancing Parental Autonomy With Protecting a Child With Epilepsy From Harm.

Neurologists are expected to accommodate parental decisions in the medical care for their child, unless the parental decision places the child at an unnecessary risk of serious harm. Sometimes, respect for parental autonomy is in conflict with the physician's professional obligation to protect the patient from harm and to optimize treatment for a particular disease or condition. This case illustrates an ethical dilemma created when the neurologist and parent disagree about the most appropriate medical treatment for a child with epilepsy.

Newborn screening for Krabbe disease: the New York State model.

Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell transplantation, which is, in the early infantile form of the disease, most beneficial if performed before onset of clinical symptoms.

Absence of mutation in the follicle-stimulating hormone receptor gene in severe primary hypothyroidism associated with gonadal hyperstimulation.

Background: Severe hypothyroidism can cause a distinct form of precocious puberty in children, characterized by delayed skeletal maturation, predominance of FSH-mediated effects over LH-mediated function, and reversal of sexual precocity upon thyroid hormone replacement. The etiology of this unusual form of precocious puberty in children remains poorly understood. Recently, three mutations of the FSH receptor gene have been identified in women with spontaneous ovarian hyperstimulation during pregnancy.

Cyanotic episodes in a male child with fragile X syndrome.

A 9-year-old male with a diagnosis of fragile X syndrome (FXS) was evaluated for cyanotic episodes of unknown etiology. Clinical observation revealed frequent episodes of hyperventilation lasting several minutes, only while the patient was awake. This was followed by apnea associated with cyanosis and oxygen desaturation.