Open and Closed Lip Schizencephaly in Seckel Syndrome: A Case Report

Abstract Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is the classic prototype of primordial bird-headed dwarfism. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine, and central nervous systems are described. The full phenotypic spectrum of this clinically and genetically heterogeneous syndrome is yet to be delineated. Presented herein is a boy 2 years and 5 months old, with Seckel syndrome, born to second-degree consanguineous Muslim parents. In addition to the classic phenotype of the disorder, this patient had both, an open and a closed lip schizencephaly detected on cranial computed tomography (CT) scan. To our knowledge, the association of schizencephaly and Seckel syndrome is not described previously in the English language literature. In addition, presented briefly is a review of the anatomical cerebral cortical malformations associated with this syndrome. Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is a rare form of primordial dwarfism, which was initially described in 1960. Keywords 1 Since the initial description, more than 60 cases are reported; however, less than one third appear to fulfill the criteria originally set forth by Seckel. 2 Among the generally accepted minimal criteria are severe intrauterine and postnatal dwarfism; severe microcephaly with mental retardation; and facial anomalies, including a receding forehead and chin, large beaked nose, and large or bulging eyes. 1 Presented herein is a child with classic Seckel phenotype, who had both an open and a closed lip schizencephaly, resulting in global developmental delay and bilateral sensorineural deafness. Case Report A 2-year 5-month-old boy, born to a 28-year-old second-degree consanguineous Muslim mother, was initially seen for his unusual ''facial appearance,'' small body stature, and for possible evaluation of developmental delay. He was born by spontaneous vaginal delivery at term and had an uneventful immediate postnatal period. The mother had 2 episodes of spontaneous miscarriage at 12th and 16th weeks of gestation in the past. She had an uneventful present pregnancy, without exposure to unusual medications, radiation, or trauma. A single antenatal ultrasound performed at 16 weeks of gestation was reportedly normal. The birth weight, length, and the head circumference of the baby were 1800 g, 37 cm, and 28 cm, respectively (all much below the third percentile). At presentation, he weighed 4250 g and stood 53 cm tall (both being significantly below the third percentile). The anthropometry revealed the following values: upper body segment to lower body segment ratio: 1.1; head circumference: 31 cm; arm span: 51 cm; upper limb length: 18 cm bilaterally with upper segment to lower segment ratio of 0.85; midarm circumference taken midway between the tip of acromian and the olecranon process: 7.5 cm bilaterally. The ratio of upper leg segment to the lower leg segment was 1.15. The chest and the abdominal circumference were 30.5 and 31 cm, respectively. The phenotype revealed a small head with sloping forehead, completely fused anterior and posterior skull fontanel with sutural ridges, relative micrognathia, bilaterally low-set ears, high-arched palate, prominent aquiline nos

Two cases of non-cystic fibrosis (CF) bronchiectasis with allergic bronchopulmonary aspergillosis

Allergic bronchopulmonary aspergillosis (ABPA) is a complex hypersensitivity reaction in patients with asthma or cystic fibrosis (CF), which is associated with bronchi colonized by the fungus Aspergillus species, most often Aspergillus fumigatus. ABPA is an important consideration for asthmatics that do not respond to asthma management or with recurrent chest infections and deteriorating lung function in children with cystic fibrosis. We present two cases of non CF bronchiectasis associated with ABPA who presented to our hospital with recurrent hospitalisations of undiagnosed aetiology