The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report

Table 1 Clinical features of three patients with similar mutant of BSCL2

Clinical features	Patient 1	Patient 2	Patient 3
Sex	Woman	Woman	Man
Age of onset	12-day-old	7-year-old	4-month-old
Physical examination
Skin	Normal	Acanthosis nigricans, Hirsutism	Hirsutism
Fat	Face lipoatrophy	General lipoatrophy	General lipoatrophy
Muscle	Normal	Muscular hypertrophy	Muscular hypertrophy
Acra	Normal	Acromegaloid features	Acromegaloid features
Heart	Atrial septal defect	Cardiac murmur	Cardiac murmur
Liver	Hepatomegaly	Hepatomegaly	Hepatomegaly
Other characteristics	Simian line	Crassitude of the penis
Laboratory examinations	Hypertriglyceridemia	Hypertriglyceridemia	Hypertriglyceridemia
	Diabetes	Diabetes	Diabetes
	Hepatic adipose infiltration	Hyperinsulinemia	Hyperinsulinemia
	Liver dysfunction	hepatocirrhosis	Hepatic adipose infiltration
		Liver dysfunction	Liver dysfunction
		Left ventricle hypertrophy	Pancreatitis
		Mild mental retardation	Severe obstructive and asymmetrical septal hypertrophic cardiomyopathy
Gene analysis	c.793C > T(p.Arg265*)	c.565G > T(p.Glu189*)	c.565G > T(p.Glu189*)
Gene analysis	c.565G > T(p.Glu189*)	c.565G > T(p.Glu189*)	c.565G > T(p.Glu189*)

Patient 1, the patient in our case; Patient 2, the patient reported by Jin et al. (15); Patient 3, the patient reported by Friguls et al. [13]. N/A, not available. *: nonsense mutation

ISSN: 1472-6823