VOL.10 | NO. 1 | ISSUE 37 | JAN - MAR 2012 Page 91 Associaton of Seizure, Facial Dysmorphism, Congenital Umbilical Hernia and Undescended Testes Thapa LJ, Pokharel BR, Paudel R, Rana PVS Department of Neurology College of Medical Sciences Bharatpur, Chitwan, Nepal. Corresponding Author PVS Rana Department of Medicine and Neurology College of Medical Sciences Bharatpur, Chitwan, Nepal. Email: rananirmalpvs@gmail.com Citaton ThapaLJ, Pokharel BR, Paudel R, Rana PVS. Associa- ton of Seizure, Facial Dysmorphism, Congenital Umbilical Hernia and Undescended Testes: A Case Report. Kathmandu Univ Med J 2012;37(1):91-3. ABSTRACT With the advances in neurogenetcs associaton of epilepsy and intellectual disability with chromosomal abnormalites are being increasingly recognized. While onset of seizures with mental retardaton at an early age indicate chromosomal abnormality, combinaton of characteristcs facial dysmorphism and congenital abnormalites gives a clue of a partcular syndrome. In additon MRI fndings may help in confrming the diagnosis. A nine years old boy is presented where early onset seizure, mental retardaton, delayed development of speech, presence of facial dysmorphism,, umbilical hernia and undescended testes suggested possibility of chromosomal 6q deleton disorder. Important deleton disorders are discussed and importance of clinical examinaton is stressed. KEY WORDS Chromosome deleton, Cryptorchidism, Facial dysmorphism, Seizures, Umbilical hernia INTRODUCTION Abnormalites of chromosome structure consist primarily of deleton syndromes (i.e. caused by a chromosome break and subsequent loss of genetc material), duplicaton syndromes (i.e. with an additonal chromosome material) and translocatons (interchange of genetc material between non homologous chromosomes). Duplicatons or deletons of large amounts of chromosome, with few exceptons, are not compatble with survival. These chromosomal disorders are rare disorders . Approximately 06% of patents having seizures and intellectual abnormalites show chromosomal abnormalites but it rises to 50 % when seizure is associated with facial dysmorphism and congenital systemic abnormalites. 1 With the development of fner cytogenetc methods, smaller deletons (“microdeletons”) associated with milder phenotypes are being recognized. Singh et al. analyzed the published literature and noted 39 important imbalances distributed mainly on 11 autosomes and the X chromosome. 2 The majority of reported “classic” deleton syndromes have a phenotype of early onset seizure, intellectual disability and congenital malformatons. 2-4 Inspite of considerable overlap in phenotypic presentaton, chromosomal abnormalites can be recognized by careful clinical examinaton as illustrated by the case reported. CASE REPORT A nine years old boy, born of a non consanguineous marriage, presented with recurrent generalized tonic seizures from the age of two years. Initally seizures occurred during febrile illness only. When seen he was on carbamazepine therapy and was getng two to three seizures per month. The prenatal, natal and post natal history was normal. At birth, he had difculty in breathing requiring medical atenton. He started speaking with hoarse voice at three years. His other milestones were normal. He was poor in his studies. When seen the child was hyperactve. The neurological examinaton was normal. Physical examinaton showed broad nose with depressed bridge, increased inter-canthal distance (Fig 1a), low set ears (Fig-1b), thin upper lip, umbilical hernia (Fig-1c) and undescended testes (Fig-1d). Investgatons i.e. hemogram, metabolic parameters, X-Ray chest and MRI were normal. Case Note