Papillon-lefevere syndrome-Consanguity as a risk factor in siblings (Case series)

Papillon-Lefevere syndrome is a very rare autosomal recessive trait characterized by palmoplantar hyperkeratosis and severe generalized early-onset periodontitis leading to premature loss of primary and permanent dentitions. Various etiopathogenesis factors are associated with syndrome. The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at age of 3-4 years. A dentist plays an important role in early diagnosing and preserving remaining teeth in oral cavity. This case series describes three cases of PLS in siblings with consanguineously married parents. All siblings in the family were affected which makes this a rare case.

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.

Existence of gilbert's syndrome and hepatitis at the same time

Gilbert`s syndrome (constitutional hepatic disfunction, familial nonhemolitic jaundice and idiopatic unconjugated hyperbilirubinemia) is inherited as an autosomal recessive trait, characterized by the liver disorders and the absence of the indicators of hemolysis, rare clinic syndrome which appears with unconjugated bilirubinemia. The cause of this disease is mutation of uridine-di-phosphate glucuronosyltransferase

“Spleen Baby”: A Case Presentation of Pyruvate Kinase Deficiency in an Amish Neonate

Pyruvate kinase deficiency (PKD) is an autosomal recessive trait in which there is a lack of the enzyme pyruvate kinase. Because of this lack of pyruvate kinase, red blood cells are broken down more freely, thereby causing hemolytic anemia. The degree to which the hemolysis occurs varies from mild-to-severe to life-threatening neonatal anemia and kernicterus necessitating an exchange transfusion. The purpose of this article is to introduce the reader to PKD through a case presentation of severe hyperbilirubinemia necessitating the need for an exchange transfusion. This article also includes the prevalence, clinical features and diagnosis, treatment, and nursing considerations in caring for this type of infant.

Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis

Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specific brain imaging fi ndings on magnetic resonance imaging. Patients present clinically with hyperpnea, apnea, ocular abnormalities, developmental delay and truncal ataxia. In this case report, we illustrate a patient with Joubert syndrome and chronic renal failure. Magmetic resonance imaging examination revealed the characteristic "molar tooth" appearance of the brain stem, "bat-wing" shaped 4th ventricle, cleft vermis and deep interpeduncular fossa consistent with the diagnosis.