Case studyA new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern
Introduction
At present, only three cases of male newborns presenting with an apparently new lethal syndrome characterized by pachygyria, joint contractures and facial abnormalities have been reported in the literature.1, 2, 3 No further neurological abnormalities were described in these cases. Here, we describe a male infant who appears to represent an additional case of the same lethal syndrome first described by Winter et al.1 In addition to the joint contractures, facial abnormalities and pachygyria, our patient was affected by an early-onset epileptic encephalopathy consisting of very frequent myoclonic jerks and a suppression-burst pattern on the EEG.
Section snippets
Case report
The patient is the first male child of non-consanguineous parents. The mother had a history of drug abuse and tested positive for hepatitis C. Her previous pregnancy resulted in a spontaneous abortion at 8 weeks gestation because of intrauterine growth arrest. The current pregnancy was complicated by polyhydramnios. Severely decreased foetal movements were discovered at 35 weeks gestation and the patient was born at 36 weeks gestation by caesarean section. Birth weight was 2.389 g (10–25th
Discussion
This infant shared a number of clinical characteristics with the three previous reported cases1, 2, 3 including male gender, facial abnormalities, joint contractures, puffy hands, camptodactyly, and cryptorchidism (Table 1). The patients described by Winter et al.1 and Levin et al.3 also showed pachygyria as did our infant. Interestingly, our patient is apparently the first to show a severe early-onset epileptic encephalopathy with a suppression-burst EEG pattern. Although our patient may
Acknowledgements
Dr. M.P. Guerra's was supported by the “A. Griffini—J. Miglierina Foundation”, Varese, Italy. The Residency Programme in Paediatrics at the University of Modena is gratefully acknowledged for granting Dr. Guerra the exchange training programme at Baylor College of Medicine, Houston, Texas, USA.
References (4)
- et al.
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities
J Med Genet
(1989) - et al.
Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome
J Med Genet
(1990)
Cited by (1)
Burst suppression in sleep in a routine outpatient EEG
2014, Epilepsy and Behavior Case ReportsCitation Excerpt :Burst suppression also occurs in the context of childhood encephalopathies such as early infantile myoclonic encephalopathy (EIME) and Ohtahara syndrome [5,6]. A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a BS pattern has also been described [7]. Burst suppression has also been reported in patients with dengue encephalopathy [8].