Case Report: Dominantly Inherited Childhood Gigantism Resembling Sotos’ Syndrome

Blackett, Piers R.; Coffman, Mary Ann; Schaefer, Gerald; Rennert, Owen M.

doi:10.1097/00000441-198903000-00012

Cited by 10 publications

(6 citation statements)

References 17 publications

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“…Although autosomal dominant inheritance has been suggested in Sotos syndrome [2], maternal glucose intolerance has also been associated with the dominantly inherited Sotos phenotype [6]. Furthermore, several pairs of identical twins are discordant for Sotos syndrome [7].…”

Section: Discussionmentioning

confidence: 99%

Sacrococcygeal germ cell tumor and spinal deformity in association with Sotos syndrome

Jin

Chen

Wang

et al. 2002

Med. Pediatr. Oncol.

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The sacrococcygeal area is the most common origin of germ cell tumors in childhood with as many as 18% being associated with congenital anomalies, including neuraltube defects [1]. The Sotos syndrome, also known as cerebral gigantism, is characterized by prenatal and postnatal overgrowth, advanced bone age, typical craniofacial features, high-arch palate, mental retardation, and dilated ventricles [2]. It is not known whether genetic/epigenetic factors or environmental factors, or both, play a part in these entities. Their combination in the same patient could help in identifying a common causal factor(s), and we here report on a girl with such a combination.The patient was born normally at term after an uneventful gestation. Her birth parameters were a weight of 3645 g (85th percentile), a length of 57 cm ( b 97th percentile), and head circumference of 36 cm ( b 97th percentile). The developmental delay was noted. She could turn over at 7 months, sit steadily at 10 months, and stand with support at 13 months of age. All other family members (father, mother, and an elder sister) had ordinary height/weight and normal development although her mother suffered from dysphopnia due to a high-arch palate.At 15 months of age, the girl was admitted to a hospital with the chief complaints of tachypnea and poor feeding, and a bulging mass over the sacral area was incidentally discovered. At that point, she was transferred to our hospital. On physical examination upon admission, her height was 93 cm ( b 97th percentile), her weight was 11.5 kg (85th percentile), and head circumference was 48 cm ( b 97th percentile). She still could not stand independently or speak meaningful words. Her craniofacial malformations included macrocephaly with frontal bossing, down-slanting palpebral ®ssures, hypertelorism, large ears, a high-arch palate, and a prominent jaw. Her hands and feet were disproportionately large. The skeletal anomalies included a funnel chest, scoliosis with double curves (right thoracic and left lumbar), and sacral dimpling. Skeletal age was estimated to be one year and six months. Brain MRI revealed typical cerebral gigantism with mild ventricular dilatation. Spinal X-ray ®lms showed thoracolumbar scoliosis and spina bi®da occulta at L5 and sacral vertebra. CT scans of the chest, abdomen, and pelvis revealed a 6.5 Â 6.0 Â 5.5 cm pelvic tumor causing the bulging of the sacral area, a 4.5 Â 4.2 Â 4.0 cm retroperitoneal mass and multiple pulmonary nodules. Serum a-fetoprotein was markedly increased (120,165.7 ng/ml) with normal blood count, blood chemistry and b-human chorionic gonadotropin. No evidence of skeletal or bone marrow metastases was found after studies by 99m Tc methylene diphosphonate bone scan as well as bone marrow aspiration and biopsy. The cytogenetic study from the bone marrow showed normal 46XX karyotype in all 50 metaphases analyzed. The pathology of the sacral tumor revealed that it contained mixed components of immature teratoma and yolk sac tumors (Fig. 1).After the diagnosis of a malignant type ...

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Section: Discussionmentioning

confidence: 99%

Sacrococcygeal germ cell tumor and spinal deformity in association with Sotos syndrome

Jin

Chen

Wang

et al. 2002

Med. Pediatr. Oncol.

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“…It is also associated with insulin resistance with or without impaired glucose tolerance (Iannello et al, 2002). Abnormal glucose tolerance has been reported in Soto's syndrome (cerebral gigantism syndrome), possibly related to growth hormone excess associated with this condition (Ambler, Cowell, Quigley, & Silink, 1993; Blackett, Coffman, Schaefer, & Rennert, 1989). Individuals with McCune–Albright syndrome (polyostsotic fibrous dysplasia, irregular skin pigmentation, sexual precocity) have autonomous endocrine hyperfunction including lipid and glucose metabolism (Spiegel, 2000; Weinstein, Yu, Warner, & Liu, 2001).…”

Section: Rare Syndromes With Risk Factors For Arteriosclerosismentioning

confidence: 99%

Risk Factors for Coronary Artery Disease among Individuals with Rare Syndrome Intellectual Disabilities

Wallace

2004

Policy Practice Intel Disabi

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Coronary artery disease is a leading cause of death among the aging members of the general population. Treatment strategies addressing the well defined risk factors and genetic factors and which prevent and reduce arterial vascular disease have been established. As in the general population, the prevalence of coronary artery disease also increases with age among adults with intellectual disability (ID), presumably due to the same risk factors. Within the ID population, however, there is a subgroup of individuals with ID due to rare syndromes who are predisposed to premature arteriosclerosis. Hypertension, diabetes mellitus, obesity, hyperhomocysteinemia, and structural arterial abnormalities appear to be associated with these syndromes predisposing them to the early development of widespread vascular disease. Reviewed are the associations between the development of premature arteriosclerosis and rare syndromes of ID. Awareness of the associations may lead to the development of more focused preventive healthcare plans among these groups of individuals.

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“…Originally thought to be a sporadic disorder, there are many convincing familial cases consistent with autosoma1 dominant inheritance [27]. Sotos syndrome is probably more common than the number of published case reports suggests, and there are currently clinical studies underway to determine the type and frequency of tumor occurrence.…”

Section: Overgrowth Disordersmentioning

confidence: 99%

“…There is a general association of overgrowth with neoplasia 171, and a particular association of Beckwith-Wiedemann syndrome (BWS) and isolated hemihyper- Sotos syndrome, also known as cerebral gigantism, is a condition of great interest to clinical geneticists because of the lack of clear-cut diagnostic criteria and the association with a variety of neoplasms, including WT 1241. Originally thought to be a sporadic disorder, there are many convincing familial cases consistent with autoso-ma1 dominant inheritance [27]. Sotos syndrome is probably more common than the number of published case reports suggests, and there are currently clinical studies underway to determine the type and frequency of tumor occurrence.…”

Section: Overgrowth Disordersmentioning

confidence: 99%

Clinical phenotypes and Wilms tumor

Clericuzio

1993

Med. Pediatr. Oncol.

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Wilms tumor can occur in association with a number of recognizable patterns of malformation, as first described by Miller et al. in 1964. This paper represents a synthesis of the current state of knowledge regarding recognizable phenotypes associated with Wilms tumor. Specific disorders discussed include the Beckwith-Wiedemann syndrome, which has been localized to 11p15.5; isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as neurofibromatosis and Perlman syndrome, respectively. Wilms tumor (WT) surveillance for specific high risk phenotypes should include a rational schedule of abdominal ultrasound examinations, taking into account the epidemiology of WT associated with specific disorders. Physical examination, with emphasis on abdominal palpation, and urinalysis should also be performed on a rational schedule. The schedule of examinations needs to be arrived at with input from clinical geneticists, oncologists, epidemiologists and pathologists with WT expertise. Lastly, care-takers of high risk individuals should be taught abdominal palpation, to be performed daily at home.

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Case Report: Dominantly Inherited Childhood Gigantism Resembling Sotos’ Syndrome

Cited by 10 publications

References 17 publications

Sacrococcygeal germ cell tumor and spinal deformity in association with Sotos syndrome

Sacrococcygeal germ cell tumor and spinal deformity in association with Sotos syndrome

Risk Factors for Coronary Artery Disease among Individuals with Rare Syndrome Intellectual Disabilities

Clinical phenotypes and Wilms tumor

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