Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.

Abbreviations EEG electroencephalography GTCS generalized tonic-clonic seizure JME juvenile myoclonic epilepsy MRI magnetic resonance imagingWe report a girl presenting with drug-refractory myoclonia and generalized tonic-clonic seizure (GTCS) on awakening who, initially, was misdiagnosed as having juvenile myoclonus epilepsy (JME) before insulinoma was detected. Many conditions may mimic or cause epileptic seizures, including psychiatric and movement disorders, cardiac arrhythmias and metabolic abnormalities. Toxic and metabolic causes are potentially curable, are refractory to antiepileptic drugs, and may be fatal if untreated. Insulinoma is a rare and treatable cause of hypoglycemic seizures which might be misdiagnosed as intractable epilepsy. Case reportIn May 2001 a 13-year-old girl was referred to the hospital because of GTCS on awakening. The family history was unremarkable and her personal history revealed one simple febrile seizure at age 3 years. One month before admission two episodes of confusional states were reported which lasted 5 and 30 min and were characterized by unresponsiveness and psychomotor slowing.Physical and neurological examinations were normal, weight was 62 kg (97th centile), height 162 cm (90th centile), and menarche was at age 13 years (March 2001, 1 month before the first seizure). Awake EEG the day after GTCS revealed normal background activity, bilateral synchronous and asynchronous high-amplitude delta waves over the parietotemporal regions, and right frontal sharpslow waves. Blood count, blood chemistry (glucose 4.5 mmol/l, calcium 2.4 mmol/l, potassium 4.0 mmol/l), and magnetic resonance imaging (MRI) of the brain were normal. Confusional states were interpreted as complex partial seizures and GTCS as a secondary generalization. Low-dose carbamazepine (6.3 mg/kg per day) was introduced. Two weeks later, a second GTCS on awakening occurred, followed by two short episodes of unresponsiveness before breakfast in front of the television. Another few days later, perioral and eyelid myoclonus and jerks in the arms and legs were noticed early in the morning. After sleep deprivation a series of myoclonic jerks at awakening in the morning and after several naps were registered coinciding with generalized low-amplitude spikes or polyspikes. JME was diagnosed and carbamazepine replaced by valproate (20 mg/kg per day) which was not effective. Blood glucose was normal (4.2 mmol/l 4 h after food intake). Two months later (August 2001) a second overnight long-term Eur J Pediatr (2007) 166:485-487

No abstract