Smith's Recognizable Patterns of Human Malformation

Central giant cell granuloma (CGCG) is a benign lesion of the jaws with an unknown etiology. Clinically and radiologically, a differentiation between aggressive and non-aggressive lesions can be made. The incidence in the general population is very low and patients are generally younger than 30 years. Histologically identical lesions occur in patients with known genetic defects such as cherubism, Noonan syndrome, or neurofibromatosis type 1. Surgical curettage or, in aggressive lesions, resection, is the most common therapy. However, when using surgical curettage, undesirable damage to the jaw or teeth and tooth germs is often unavoidable and recurrences are frequent. Therefore, alternative therapies such as injection of corticosteroids in the lesion or subcutaneous administration of calcitonin or interferon alpha are described in several case reports with variable success. Unfortunately, randomized clinical trials are very rare or nonexistent. In the future, new and theoretically promising therapy options, such as imatinib and OPG/AMG 162, will be available for these patients.

Central giant cell granuloma of the jaw: a review of the literature with emphasis on therapy options.

Noonan-like/multiple giant cell lesion syndrome (NL/MGCLS; OMIM 163955) is a rare condition1–3 with phenotypic overlap with Noonan’s syndrome (OMIM 163950) and cherubism (OMIM 118400) (table 1).

View this table:

 Table 1 
 Comparison of the clinical characteristics of cherubism, Noonan’s syndrome, and Noonan-like/multiple giant cell lesion syndrome



Recently, missense mutations in the PTPN11 gene on chromosome 12q24.1 have been identified as the cause of Noonan’s syndrome in 45% of familial and sporadic cases,4,5 indicating genetic heterogeneity within the syndrome. In the study by Tartaglia et al ,5 there was a family in which three members had features of Noonan’s syndrome; two of these had incidental mandibular giant cell lesions.3 All three members were found to have a PTPN11 mutation known to cosegregate with the Noonan phenotype. This mutation, an A→G transition at position 923 in exon 8, predicting an Asn308Ser substitution within the PTP domain, was identified in an unrelated kindred with classical Noonan’s syndrome. No other patients with NL/MGCLS had been evaluated for the PTPN11 mutation.

Cherubism is caused by a missense mutation in the coding region of the SH3BP2 gene on chromosome 4p16.3.6 In the study by Ueki et al ,6 12 of 15 families showed point mutations in the SH3 binding protein, SH3BP2. All seven mutations identified were on exon 9 and affected three amino acids by substitution within a six amino acid sequence. A second locus or gene has not been identified.

We present the phenotype of three sporadic cases of NS/MGCLS and the results of mutation analysis of the PTPN11 and SH3BP2 genes.

The clinical features of the three patients are summarised in table 2.

View this table:

 Table 2 
 Phenotype of three patients with Noonan-like/multiple giant cell lesion syndrome



All patients were enrolled in the National Institutes of Health IRB approved protocols and written informed consent was …

https://jmg.bmj.com/content/jmedgenet/42/2/e11.full.pdf

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

Cognition and emotion in adults with Noonan syndrome. A neuropsychological perspective

In the present study, 386 patients with the diagnosis of poisoning admitted to the Pediatric Emergency Unit of Farabi Hospital of Medical Faculty of Karadeniz Technical University between January 2002 and December 2006 were retrospectively evaluated with respect to gender, age, cause of poisoning, type of substance used, route of exposure, reason for the intake, signs and symptoms, time of referral to the hospital, hospitalization period, and prognosis. The age group of most poisoning cases was <5 years of age and constituted 51% (n = 197) of all cases. The main toxic agent was drugs (70.2%), followed by foods (8.8%), rodenticides (7%), insecticides/pesticides (4.9%), and carbon monoxide (4.7%). In childhood poisonings, accidental drug poisoning was frequent in toddlers, whereas suicidal poisoning was frequent in adolescents. The suicidal poisoning rate was 23.8% among all poisoning patients, and 98.9% of these patients were adolescents. The suicidal poisoning rates for males and females were 30% and 70%, respectively. An increase in suicidal and inhalation poisonings was observed when compared with previous studies that have been conducted in the same region. The results of the present study suggest that poisonings still represents an important health problem that could be prevented by safe drug storage at home, as well as parental education on adolescence issues, particularly those regarding females.

Pattern of pediatric poisoning in the east Karadeniz region between 2002 and 2006: increased suicide poisoning.

We report a case of Noonan syndrome associated with central giant cell granuloma. The patient was a 10 1/2-year-old boy with the chief complaint of proptosis of the right eye. He also had various malformations such as short stature, webbed neck, pectus excavatum, cubitus valgus, pulmonary valve stenosis and patent foramen ovale, a characteristic face appearance and cryptorchidism and so on. Chromosome analysis showed a 46,XY karyotype. A computed tomographic scan and magnetic resonance imaging showed a mass originated from the lateral wall of the right maxillary sinus. The patient underwent Caldwell-Luc operation. Histological examination of the mass showed the characteristics of central giant cell granuloma. This case report describes a patient with the features of the recently described Noonan-like/multiple giant cell lesion syndrome.

Noonan syndrome associated with central giant cell granuloma.

Karadeniz Bölgesinde çocuk zehirlenme vakalarının retrospektif incelenmesi

Sir, A 15-day-old boy was admitted to our hospital, with a history of unexplained deaths of siblings. Physical examination revealed a marked thyromegaly: 2 x 3 cm on the left lobe and 2.5 x 3 cm on the right lobe (Fig. 1). In the family history, his two sibs had died suddenly at three and four months of age. There was no consanguinity between his parents. Blood smear, urine analysis, liver and kidney function tests were normal, but blood uric acid concentration was 11.4 mg/dl. Thyroid hormone values were in the normal range: T3 12 pg/dl; T4 150 ng/dl; rT3 85 ng/dl; TBG 2.6 mg/dl; TSH 3.5 mIU/1. The patient’s plasma was milky in appearance and plasma lipid and lipoprotein levels were found to be significantly elevated: cholesterol 580 mg/dl; triglycer-

Congenital goiter and secondary hyperlipidemia

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Noonan syndrome associated with central giant cell granuloma.

Karadeniz Bölgesinde çocuk zehirlenme vakalarının retrospektif incelenmesi

Congenital goiter and secondary hyperlipidemia