CLINICAL REPORT Hemiconvulsion–Hemiplegia–Epilepsy Syndrome With 1q44 Microdeletion: Causal or Chance Association Rekha Gupta, 1 Meenal Agarwal, 1 Vijay R. Boqqula, 2 Rajendra V. Phadke, 3 and Shubha R. Phadke 1 * 1 Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India 2 Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India 3 Department of Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India Manuscript Received: 2 July 2013; Manuscript Accepted: 8 August 2013 Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor con- vulsions, hemiplegia, and epilepsy in sequence. Exact pathogen- esis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the patient also had global developmental delay, subtle facial dysmorphism, and preaxial polydactyly. Clinical phenotype of 1q44 microdeletion syndrome is quite variable. Main clinical features are microcephaly, seizures, and abnormality of corpus callosum. We compared the patient’s phenotype with other patients in 10 previously published papers of 1q44 microdeletion syndrome. HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence. Ó 2013 Wiley Periodicals, Inc. Key words: hemiconvulsion–hemiplegia–epilepsy (HHE); cytogenetic microarray (CMA); 1q44 microdeletion; preaxial polydactyly INTRODUCTION Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a dis- order, which is usually characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Initial event may be triggered by fever, trauma or underlying inherited hypercoagulable states that is, factor V Leiden mutation and protein S deficiency [Mondal et al., 2006]. However exact pathogenesis is still unclear. Here we describe a 3-year-old girl who presented to us with HHE syndrome and cytogenetic microarray (CMA) showed 1.8 Mb deletion in 1q44 region. CLINICAL REPORT A 3-year-old girl presented with global developmental delay, hemi- paresis of right side, and seizures. She was born to a non-consan- guineous couple. Antenatal and perinatal periods were uneventful and birth weight was 3.5 kg (50th centile as per Indian standard). Her parents had noticed developmental delay in the early infantile period. She achieved neck control and sitting at 6–7 and 8–9 months of age, respectively. At 1 year of age she had two episodes of convulsions involving right side of body. Following the first episode she was unconscious for an hour. After 2 months she again had prolonged seizures and had to be put on ventilatory support. After recovery she developed right sided hemiparesis. After second epi- sode she was given antiepileptic medications. She had repeated convulsions even on medication. On examination she had mild facial dysmorphism including apparent hypertelorism and short upturned nose. There was no facial asymmetry. Her thumbs were broad and right hallux was duplicated (Fig. 1A,B). Her head circumference was 46.5 cm (10th centile as per Indian standard) and height was 76 cm (<3rd centile as per Indian standard). Neurological examination showed mildly increased tone in right upper and lower limb with normally elicitable deep tendon reflexes. Her planter reflexes were flexor How to Cite this Article: Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. 2014. Hemiconvulsion– hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association. Am J Med Genet Part A 164A:186–189. Grant sponsor: Indian Council of Medical Research. Correspondence to: Shubha R. Phadke, D.M., Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebarely Road, Lucknow, Uttar Pradesh 226014, India. E-mail: shubharaophadke@gmail.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 8 November 2013 DOI 10.1002/ajmg.a.36198 Ó 2013 Wiley Periodicals, Inc. 186