A Japanese patient with the Costello syndrome

Abstract

The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.

Costello syndrome with growth hormone deficiency and hypoglycemia: A new report and review of the endocrine associations

“…As Johnson et al [1998] note, many findings in CS point toward a metabolic basis for the condition, and it is interesting to speculate whether this metabolic abnormality may originate in the hypothalamic-pituitary axis. This hypothesis is supported by the reports of combined GH and cortisol deficiency in the patient of Yetkin et al [1998] (and strongly suspected in our patient), combined GH and thyroid hormone deficiency in the patient of Gripp et al [2000], the other reported cases of isolated GH deficiency [Okamoto et al, 1994;Schimke et al, 1996;Legault and Gagnon, 2002;Delrue et al, 2003]], and mention of elevated prolactin levels in one patient with CS [Johnson et al, 1998]. Lin et al [2002] speculated that GH therapy in CS patients may cause the progression of existing cardiac hypertrophy, or initiate hypertrophy in patients with an apparently normal myocardium.…”

“…It has also been noted that patients with CS are at increased risk for the development of tumors [DeBaun, 2002;Gripp et al, 2002]. Further, a few reports describe endocrine abnormalities in some patients with CS, specifically of growth hormone (GH) [Okamoto et al, 1994;Schimke et al, 1996;Yetkin et al, 1998;Legault and Gagnon, 2002;Delrue et al, 2003] and glucose metabolism [Di Rocco et al, 1993;Johnson et al, 1998;Yetkin et al, 1998;Szalai et al, 1999;Gripp et al, 2000]. We describe a patient with CS, with partial GH deficiency and hypoglycemia.…”

Growth hormone deficiency in Costello syndrome

“…Children diagnosed and treated for GH deficiency show good catch-up growth with final adult heights ranging between À1.5 and À0.7 SDS [Price and Ranke, 1994;Blethen et al, 1997]. Children with Costello syndrome exhibit severe growth failure; however, there are reports of only two cases in which GH secretion was assessed and found to be deficient [Okamoto et al, 1994;Legault et al, 2001]. One of these patients showed limited response to GH therapy [ Okamoto et al, 1994], while the other (reported in follow-up here) responded well to initial therapy [Legault et al, 2001] and continues to grow well after several years on therapy.…”

Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review

“…Recently additional cases [Borochowitz et al, 1992;Di Rocco et al, 1993;Patton and Baraitser, 1993;Philip and Mancini, 1993;Say et al, 1993;Teebi and Shaabani, 1993;Zampino et al, 1993;Fryns et al, 1994;Davies and Hughes, 1994;Okamoto et al, 1994;Vila-Torres et al, 1994;Czeizel and Tìmà r, 1995;Umans et al, 1995;Torrelo et al, 1995;Johnson et al, 1998;Kerr et al, 1998;van Eeghen et al, 1999] with Costello syndrome have been reported (Table I).…”

“…(Anal) patient 2 1.5 yrs (Anal) 17 mths, ganglioneuroblastoma Di Rocco et al, 1993 5 yrs 5 yrs (Nasal) Teebi and Shalabani, 1993 18 mths Say et al, 1993 6 mths (limbs) ? (Laryngeal) Okamoto et al, 1994 7 yrs Fryns et al, 1994 6 yrs (Perianal) 12 yrs (Nasal) Davies et al, 1994 10 yrs (Lower eyelid) Vila-Torres et al, 1994 6 yrs 7 yrs (Nasal, neck) Torrelo et al, 1995 Birth birth (Nasal, perioral) Suri et al, 1998?, vestibular schwannoma Johnson et al, 1998: patient 1 9 yrs (Nasal) patient 2 teens (Nasal, facial) patient 3 Kerr et al, 1998: patient 1 patient 2 2 yrs, embryonal rhabdomyosarcoma 3 yrs, embryonal rhabdomyosarcoma Our case 2 yrs 11 yrs (Gingival) 12 yrs, carcinoma (Bladder)…”