Mitral Stenosis in an Atypical Case of Gargoylism: A Case Report with Pathologic and Histochemical Studies of the Cardiac Tissues

Abstract

The patient was a white boy knowni to have an atypical variety of congenital chondrodystrophy. lie was first admiiitted to The Children's Hospital of Philadelphia at the age of 5 vears for cardiac evaluation shortly after the discovery of a cardiac niiurniur and cardiomeg'alv associated with dimniiinished exercise tolerance. He died 4 mwonths later in acute congestive heart failure, a few hours after the onset of an intercurrent respiratory tract infection.Both parents and a 3-year-old brother were niormnal and healthy. There had been no previous miscarriages. No history of consangnuinity could be elicited; both maternal clnd paternal grandparcaits wer e Jewish and had immliiigrated from-l the saine localitv in eastern Europe.The patienit was borii following an 8-imioath plegnanmcy which was term:linated premuaturely beause. of placenta praevia. Following the onset of v-agrinal bleeding, during the second month of pregnancy, the muother received dailv oral "hornione" miiedication. The birth weight was 2,210 Gin.; there were no immllwediate neonatal difficulties. Physical examiination ini the nursery revealed small, square hands and feet, short upper extrei=ni-ties, and a position of extension of all extremnities.No cardiac abnormiialities were noted at this timne.Roentgenogramns of the long bones were reported to be noramal. Ineubator care was inainitained for 3 weeks following' which the patienit was diseharged weighing 2',515 Gm.The patie-nt fed poorly and gained weight slowly

Patients with geleophysic dysplasia are not always geleophysic

“…Lipson et al [1987] divide GD into severe and intermediate forms. It seems that the severe form is characterized by progressive thickening of the heart valves or progressive upper respiratory stenosis, usually leading to death at the age of 5 or before, as in the case of Vanace et al [1960] and cases 2 and 3 of Spranger et al [1984a]. The intermediate form is less or nonprogressive with survival beyond adolescence, as in cases 2 and 3 of Shohat et al [1990], the 12-year-old boy of Spranger et al [1984a], the three cases of Pontz et al [1996] and our cases.…”

“…However, our patients' facial appearance is different enough from one another to correspond to different subgroups of the condition. Case 2, clinically less severe, has the same ''happy-natured'' face as the cases of Spranger et al [1984a] and Vanace et al [1960]. On the other hand, case 1 has markedly similar facial traits and the same stocky build as case 3 of Rosser et al [1995].…”

“…Geleophysic dysplasia (GD) was established as a specific entity by Spranger et al [1971] based on two patients of their own and another published previously by Vanace et al [1960]. They described a storage disorder, characterized by short stature, small hands and feet, a peculiar pleasant facial appearance, hepatomegaly and progressive cardiac valvular disease.…”

Clinical and morphological phenotype of geleophysic dysplasia

“…8 Although most patients die in the 1st 6 years of life owing to the progressive involvement of heart valves and myocardium and, sometimes, stenosis of the upper respiratory tract, milder cases have been reported. 2,9,10 …”

Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia

“…Only 22 cases have been reported world-wide. Unfortunately, the abnormal storage material sometimes infiltrates vital tissues including the heart valves and trachea, leading to heart failure and progressive respiratory distress, which can cause death in early childhood or teenage years (Vanace et al, 1960).…”