Harlequin ichthyosis - a rare genetic disorder : a case report

Harlequin lchthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised making the infant prone to infections and dehydration. Present treatment protocol consists mainly of conservative and supportive therapies. The authors report this case as it is a rare disease. The main purpose of this report is to create awareness about the disease and discuss the genetic factors along with micro anatomy of skin ultimately leading to this condition.

Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. Five causative genes have been identified to date. The syndrome has been recognized for decades and due to its rarity, the literature contains mostly descriptive reports, many early studies lacking molecular genetic diagnoses. A spectrum of clinical severity exists. Severe cases can lead to neonatal cardiac arrest and death during an episode, an outcome prevented by early diagnosis and clinical vigilance. Large treatment studies are not feasible, so therapeutic measures continue to be empiric. A marked response to clonazepam is often reported but refractory cases exist. Herein we report the clinical course and treatment response of a severely affected infant homozygous for an SLC6A5 nonsense mutation and review the literature summarizing the history and genetic understanding of the disease as well as the described comorbidities and treatment options.

Video Recording Study of Infants Undergoing Primary Cheiloplasty: Are Arm Restraints Really Needed?

Objective: Arm restraints are traditionally used during the perioperative period for cleft surgery to prevent the affected infant from damaging the wound, but the benefits of this standard practice have been controversial. To investigate whether the use of arm restraints provides any benefit to the patient, a video recording study of infants undergoing primary cheiloplasty was conducted. Design: Analysis of video recordings of infants undergoing cheiloplasty. Setting: Shizuoka Children's Hospital, Shizuoka, Japan. Patients and Methods: Eight patients who underwent primary cheiloplasty were recorded for 24 hours on the day before the operation, the day of the operation, and the fourth postoperative day. All recordings were examined by the first author, and the frequency and manner of lip touching were evaluated. Results: Although the frequency of touching varied considerably from 2 to 136 times per 24 hours, it was not statistically different among the 3 recording days (Friedman test, p > .05). All infants touched their lips softly and never attempted to manipulate or scratch their wound. None of the patients pinched the stitches or adhesive tape on the wound with their hands. Conclusions: Although the examined infants touched their lips, they never touched them in a manner that would be harmful to the wound. We concluded that arm restraints are unnecessary after primary cheiloplasty if the procedure is performed before the age of 3 or 4 months.

A Preoperative Appliance for a Newborn with Cleft Palate

Cleft palate is a commonly observed congenital maxillofacial defect. One of the most important problems with clefts is the interference with feeding. An affected infant cannot produce negative pressure in the oral cavity and therefore cannot move the bolus backward to the pharynx. To obtain better nutritional intake prior to surgical correction, a palatal lift obturator is recommended. In this clinical report, a modified technique of obturator fabrication is presented. The new method uses a piece of tulle, a flexible and durable material that is frequently used in theater attire. With the help of this material, the bulb part is connected to the plate as a labile piece, and this connection acts like a natural velopharyngeal extension. Additionally, because of the softer property of the silicone elastomer, the posterior pharyngeal wall is less irritated.

Rare Polymorphisms Associated with Neonatal Alloimmune Thrombocytopenia (NATP) and New Mutations Identified in Platelet Glycoproteins (GP)

Neonatal Alloimmune Thrombocytopenia (NATP) is caused by maternal immunization against alloantigens carried on paternal platelet glycoproteins (GP). Although common antigens and their corresponding antibodies can be reliably detected, about two-thirds of suspected cases of NATP go unresolved. We are investigating the extent to which maternal immunization against low frequency antigens not usually tested for contributes to the relatively low diagnostic yield in NATP evaluations. In the course of this work, we have identified eight previously undescribed amino acid substitutions located in four different platelet GPs (Table 1). Table 1. Eight new mutations identified in platelet glycoproteins Name Sta Kno Sol Brc Bec Aus Rou2 Rou1 GP IIIa IIb IIIa Ia IIIa Ibb IIb IIb Mutation K137Q T619M E628K E505V K646E D13H G790S T9A The incidence of each mutation in the general population is less than 1.0%. Antigens Sta and Kno were each identified in fathers of suspected NATP cases and in the affected infants. In addition, maternal antibodies reacted with recombinant GPs modified to contain the relevant mutations, making it very likely that the antibodies were the cause of NATP in these instances. Antigen Sol was identified in the father and maternal antibody reacted strongly with paternal GPIIb/IIIa. However, the infant has not yet been typed. It is likely, but not certain that immunization against Sol caused NATP in this case. Mutation Brc was found in the father of an infant with possible NATP. However maternal serum failed to react with GPIa from father’s platelets and it was not possible to type the affected infant. Mutations Bec, Aus and Rou2 were identified in paternal DNA but the affected infants were negative for these mutations. Mutation Rou1 was identified in maternal DNA and could not have been an immunogen. It is highly likely that three of the eight new mutations (Sta, Kno, and Sol) caused maternal immunization leading to NATP. However, the other five (Bec, Aus, Brc, Rou1 and Rou2) appear to have been identified incidentally in the course of the NATP evaluations. Before concluding that maternal-fetal incompatibility for a rare antigen identified in the father is the immunogen responsible for triggering NATP these findings emphasize the importance of typing an affected infant to determine whether a low frequency antigen identified in the father was inherited. In addition it is necessary to confirm that maternal serum reacts with the suspected paternal antigen incorporated into a recombinant protein or carried on platelets from an unrelated individual.