Novel mutations in geleophysic dysplasia type 1.

Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. The 1st mutation was probably a pathogenic one, c.[1934G>A] p.[Arg645His], located in exon 13; the 2nd, in intron 8, was probably changing a splice site. While the light and electron microscopic findings were similar to those previously described, hydrocephalus due to aqueductal stenosis might be a new associated finding in these patients. This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease.

Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3.2.1.45). Three clinical forms of Gaucher disease have been described: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (OMIM 230800, 230900, 231000). Over the past decade, recognition of a distinct, perinatal lethal form of Gaucher disease (PLGD) has led researchers and clinicians to evaluate Gaucher disease in the differential diagnosis of congenital ichthyosis and nonimmune hydrops fetalis. To date, more than 30 cases of PLGD have been genotyped and reported. It has been observed that homozygosity for recombinant GBA alleles, which are fundamentally null alleles, leads to early lethality, usually in utero or during the 1st few days of life, whereas genotypes involving a recombinant allele and a missense mutation may be less detrimental. Here, we report a case of Gaucher disease with prenatal onset and death within hours of birth, likely due to compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation. In view of the patient's severe clinical course, and based on reviews of other PLGD cases, we postulate that a missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele, may result in early lethality in patients with PLGD. We also speculate that R131C is an extremely severe mutation that has occurred more than once in different populations and, in either the homozygous form or heterozygous with another severe mutation, will result in a poor prognosis.

Perinatal lethal Gaucher disease.

Perinatal Lethal Gaucher Disease (PLGD) is a rare form of Gaucher disease and is often considered a distinct form of type 2 Gaucher disease. The authors report on an infant who presented with progressive hepatosplenomegaly, ichthyosis, generalized skin edema and neonatal encephalopathy and died at 6 h of age. Autopsy revealed massive hepatosplenomegaly, ichthyosis, a diffuse collodion picture and histological evidence of infiltration by Gaucher cells in the liver, spleen, lung, thymus, lymph node and bone marrow. Genetic testing of the parents revealed both to be carriers of Gaucher disease.

Laparoscopic resection of extra-adrenal pheochromocytoma--case report and review of the literature in pediatric patients.

Surgery for pheochromocytoma differs from that of other tumors owing to the potential release of catecholamines, which may lead to severe intraoperative hemodynamic changes. The present standard of care for resection of adrenal pheochromocytoma has become a laparoscopic approach for surgical excision. Extra-adrenal pheochromocytoma is a very rare entity, especially in the pediatric age group; the utility of the laparoscopic approach is not established in this population. We present a case report of a child with hormonally active extra-adrenal pheochromocytoma originating in the organ of Zuckerkandl that was resected laparoscopically. We found the laparoscopic approach gave excellent exposure, allowing for proper identification of the tumor's origin and its relation to surrounding structures; a complete resection with excellent control of the feeding blood vessels was performed. Herein we present the details of this case and a review of the relevant literature. After our initial experience we can recommend laparoscopic exploration for similar cases of suspected extra-adrenal pheochromocytoma as an appropriate tool to identify extension of the disease and estimate resectability. Proper patient preparation and monitoring are critical for success.

Liver involvement in Langerhans cell histiocytosis.

Liver involvement in Langerhans cell histiocytosis (LCH) typically presents with hepatomegaly and other signs of liver dysfunction. We present an 11-month-old child having only minimally elevated liver enzymes as an indication of liver involvement. Using sonography as the initial diagnostic tool followed by MRI, LCH of the liver was revealed. A review of sonographic, CT, MRI and MR cholangiopancreatography findings in liver LCH is presented. We recommend that physicians consider sonography and MRI screening for liver involvement in patients with newly diagnosed LCH, as periportal involvement may be present with little or no liver function abnormality present, as in this patient.

Pediculosis capitis.

Pediculosis capitis is a worldwide public health concern. Infestation occurs most commonly in children, with a peak incidence between 5 to 11 years of age. The condition is more common in girls and less common in Black children. Direct head-to-head contact is the most common mode of transmission. Pruritus is the most common symptom of infestation. The gold standard for diagnosing pediculosis capitis is finding a live louse or nymph in the scalp or viable egg in the scalp hair. Pediculicides are the most effective treatment. All household members and close contacts should be examined and treated concurrently if infested. The child should be allowed to return to school or to a child care facility after proper treatment. The child should be discouraged from close, direct head contact with others or from sharing items that have come in contact with the hair.