Seizures and a hiccup in the diagnosis

Abstract

CASE REPORTA female infant was born by normal vaginal delivery at Waikato Hospital at 40 weeks gestation to a 17-year-old primigravida following an uneventful pregnancy. Labour was complicated by the presence of thick meconium. Apgar scores were 6 and 8 at 1 and 5 minutes, birthweight 2920 g and head circumference 34 cm. Neonatal intensive care unit admission was not required in the immediate postnatal period. As it was Christmas day, at 14 h of age mother and baby transferred to a peripheral hospital to be closer to home. There were comments in the infant's notes that she had not fed well and was very sleepy but this was not thought to be significantly abnormal. However, midwifery staff attending the child following this transfer were also concerned about her poor feeding, floppiness and lethargy. Thus, at 36 h of age, the infant was referred back to the tertiary institution where she was admitted to the neonatal intensive care unit. Examination revealed a non-toxic child with moderate hypotonia and poor reactivity. Deep tendon reflexes were normal. There were no dysmorphic features. On review of the antenatal history, there was no alcohol or drug use in pregnancy and the parents were not related. Mother reported a history of Chlamydia and genital herpes prior to this pregnancy.Complete blood count, electrolytes, urea, glucose, liver function tests, serum lactate and arterial blood gas were normal. Serum ammonia was 97 µ mol/L (0-50). A urine toxicology screen for amphetamines, opiates, benzodiazepines and cannabinoids was negative. Cerebral ultrasound showed unusual grey-white matter differentiation with slit like ventricles. The initial impression was of an unrecognized asphyxial insult. On day 3, the infant began to have short generalized seizures and apnoeas. In addition, her level of consciousness had deteriorated further and hypotonia worsened. Phenobarbitone was commenced but a midazolam infusion was also required to control seizure activity. CSF cell count, protein and glucose were normal however, penicillin, cefotaxime and acyclovir were given until CSF culture and Herpes simplex virus (HSV) DNA were reported as negative. Her apnoeas were managed initially with nasal prong oxygen but by 6 days of age she required intermittent positive pressure ventilation.The infant was discussed with a metabolic paediatrician and although an underlying metabolic diagnosis was considered unlikely, a more extensive metabolic work up was initiated. Tests performed included urinary organic and amino acids, plasma very long chain fatty acids, plasma and CSF glycine, serum uric acid and plasma carnitine and acylcarnitine.

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“…17 The quality of life is compromised both in the absence of the episodes and during episodes. Because of the unpredictability of their cause(s) and duration, persistent hiccups are considered the most difficult symptom patients have confronted in their lives and over the course of the cancer disease.…”

Baclofen for stroke patients with persistent hiccups: a randomized, double-blind, placebo-controlled trial

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