Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

Background: Aplasia cutis congenita is a heterogeneous disorders group with a rare reported incident of 0.5 to 1 in 10,000 births. ACC can be associated with physical defects or syndrome that may help in diagnosis, prognosis and further evaluation of the patient. Trisomy 13 is one of the most common fetal life limiting diagnosis which is associated with ACC of membranous type scalp. Objective: In this article, we report cases of aplasia cutis congenita of the scalp with dura and bone defect and exposed sagittal sinus in newborn diagnosed to have trisomy 13. It emphasizes the importance of ACC associated syndrome which is having high mortality prior to surgical intervention. Case presentation: The patient was born at 35 weeks of gestation. Her physical examination revealed a newborn girl with dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. She had area of loss of scalp skin and skull bone with seen brain tissue and sagittal sinus were exposed that was measure 6 by 5 cm in size. Additionally, she had a clenched fist and overlapping fingers and rocker bottom feet. Laboratory investigations include basic labs and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 in all 20 metaphase cells counts. Conclusion: The patient was managed conservatively. However, a multidisciplinary team agreed on do not resuscitate with no further surgical intervention as survival rate of trisomy 13 is poor.

Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn.

Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5-1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention.

"Cable Suturing Technique" a Dural Obliteration Method for the Prevention of Cerebellar Herniation through a Large Occipital Meningocele.

The authors present a patient who had a large occipital meningocele, which was transformed into an encephalocele after primary closure due to a large skull defect. Thus, the technical importance of classifying patients with occipital meningocele with a large skull defect and a tight dural obliteration is crucial, not to leave a wide dead space with a potential risk of cerebellar herniation. Encephalocele and meningocele are embryological anomalies, which result in intracranial structures herniation due to inborn skull defect. Acquired encephalocele may develop through the same defect with normal cerebellar tissues; since the prognosis of occipital encephalocele may worsen as the size of herniation increases, the patient underwent a modified dural obliteration technique (Cable Suturing Technique) to adjust the size of the dura and to strengthen it to prevent the risk of future herniation followed by cranioplasty and the cerebellar herniation regressed significantly after the procedure.

A Method for Reconstruction of Severely Damaged Spinal Cord using Autologous Hematopoietic Stem Cells and Platelet-rich Protein as a Biological Scaffold.

INTRODUCTION: There have been attempts to alter the prognosis of severe spinal cord injury in different centers, but none of which have reliably altered the outcome. Some trials use stem cells (SCs) that produced widely differing results. We hereby add our experience in our center of a surgical reconstruction of the damaged spinal cord using a mixture of SCs and Platelet-Rich Protein (PRP) with fibrin coated as a biological scaffold. MATERIALS AND METHODS: Four cases of severely damaged spinal cord have been operated for neurolysis and reconstruction of the spinal cord using SCs and platelet-rich protein (PRP) with fibrin coated harvested from the peripheral circulation of the patient. PRP serves to maintain the position of the SCs. One milliliter suspension contains an average of 2.8 × 106 of autologous hematopoietic SCs. Patients were intraoperatively monitored by somatosensory evoked potential, motor evoked potentials, and delta wave. They are clinically followed postoperatively and electromyogram was repeated every 2 weeks. Magnetic resonance imaging (MRI) was repeated regularly. The patients are followed up for a period between 2 and 3 years. RESULTS: One patient demonstrated motor and objective sensory improvement (P = 0.05), two other patients reported subjective sensory improvement, and the fourth one remained without any improvement (P = 0.1). None of these patients demonstrated any sign of deterioration or complication either on the surgery or on implanting of the SCs. MRI clearly proved that the inserted biological scaffold remained in place of reconstruction. CONCLUSION: SCs may play a role in restoring spinal cord functions. However, the unsolved problems of the use of SCs and related ethical issues should be addressed.