cosyntropin and Intellectual-Disability

A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.

Topics: Abnormalities, Multiple; Adrenocorticotropic Hormone; Child; Corticotropin-Releasing Hormone; Cosyntropin; Dermatoglyphics; Fingers; Hormones; Humans; Hypoglycemia; Hyponatremia; Intellectual Disability; Male; Seizures; Syndrome; Water-Electrolyte Imbalance

Most Japanese pediatric neurologists attempt other treatments before using adrenocorticotropic hormone (ACTH) therapy for West syndrome (WS), and even then, they use only a low-dose synthetic ACTH to avoid serious adverse effects. In this multi-institutional study, the authors analyzed the initial effects, adverse effects, and long-term outcome in patients treated with low-dose synthetic ACTH in Japan.. The medical records of 138 patients with WS, who were treated with low-dose synthetic ACTH therapy for the first time at the authors' institutions between 1989 and 1998, were analyzed.. At the end of ACTH therapy, excellent effect on seizures was noted in 106 of 138 (76%) patients, good effect in 23 (17%), and poor effect in 9 (7%). Initial effects on EEG were excellent in 53 of 138 (38%) patients, good in 76 (55%), and poor in 9 (7%). As for seizure prognosis at the time of follow-up, 51 of 99 (52%) patients were seizure-free, whereas 48 (48%) patients had seizures. Mental outcome was normal in 6 of 98 (6%) patients, mild mental retardation in 16 (16%), moderate mental retardation in 26 (27%), and severe mental retardation in 50 (51%). The initial effects of ACTH on seizures and long-term outcome were not dose dependent (daily dosage 0.005 to 0.032 mg/kg, 0.2 to 1.28 IU/kg; total dosage 0.1 to 0.87 mg/kg, 4 to 34.8 IU/kg). The severity of adverse effects correlated with total dosage of ACTH, and the severity of brain volume loss due to ACTH correlated well with the daily dosage and total dosage of ACTH.. Low-dose synthetic ACTH therapy is as effective for the treatment of WS as the higher doses used in previous studies. The dosage of synthetic ACTH used in the treatment of WS can be decreased as much as possible to avoid serious adverse effects.

Topics: Brain; Cosyntropin; Electroencephalography; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Male; Retrospective Studies; Spasms, Infantile

The prognosis of infantile spasms is grim when a detectable brain lesion is present. In contrast, cryptogenic infantile spasms, in which there is no identifiable brain lesion, usually run a favorable course under treatment. Few studies have focused on the outcome in children with cryptogenic infantile spasms. Among 111 pediatric patients with a history of infantile spasms hospitalized over 18 consecutive years, 23 (21%) were given a diagnosis of cryptogenic infantile spasms. Follow-up ranged from 4 to 21 years. Outcome was as follows: the IQ was above 80 in 39% of cases and above 100 in 13% of cases; 42% of patients of school age were attending school but half of these had learning disabilities; 30% of patients had severe psychiatric disorders, and 22% had developmental delay and severe epilepsia. Early factors apparently associated with a good prognosis included the mild nature of psychomotor regression, persistence of spindles on EEGs recorded during NREM sleep, and prompt improvement of clinical status and EEG recordings under treatment. Conversely, severe regression, focalized EEG anomalies, failure of development to resume promptly after initiation of therapy, recurrence of spasms and hypsarrhythmia at discontinuation of treatment, and onset before 5 months or after 11 years of age were associated with a poor prognosis.

Topics: Adrenocorticotropic Hormone; Child, Preschool; Cosyntropin; Developmental Disabilities; Electroencephalography; Female; Follow-Up Studies; Humans; Hydrocortisone; Infant; Intellectual Disability; Intelligence; Male; Prognosis; Spasms, Infantile; Valproic Acid