Role of Social Factors in Glycemic Control Among African American Children and Adolescents with Type 1 Diabetes.

OBJECTIVE: With the rising incidence of Type 1 diabetes (T1DM), it is important to recognize deficiencies in care and areas of improvement to provide better access to resources and education for T1DM patients. The objective of this study was to recognize social factors and compliance barriers affecting glycated hemoglobin (A1c) level in T1D patients among the minority population. METHODS: A total of 84 T1DM patients, ages 3 to 21 years, 49% males, 87% African American participated in the study. Study questionnaires assessing patient knowledge and other variables were distributed and patient charts were reviewed retrospectively to obtain relevant clinical data. T-tests, one-way ANOVA and spearman correlation were used for analysis. RESULTS: Mean A1c in our study was 10.5% and mean knowledge score was 10.1 out of 14. There was no significant correlation (r = 0.12, p = 0.26) between A1c and patients' knowledge scores. Patients with more frequent blood sugar (BS) monitoring (3-4 times/day) had 2 points lower A1c (9.6 vs 11.6 %, 95% CI 0.2-3.7, p = 0.03) than those with 2 or less times/day. No significant difference in A1c between 3-4 checks/day vs >4 checks/day BS checks. Most patients reported 'forgetfulness' (19%) followed by 'too time consuming' (17.9%) as barriers to daily BS monitoring. There was no significant difference in A1c between pen or pump users (10.5 vs 10.2 %, p = 0.55). Surprisingly, those with home supervision had higher A1c than those without (10.7 vs 9.6 %, p = 0.04) while there was no significant difference between those with or without nurse supervision at school (10.6 vs 9.8 %, p = 0.33). Those reporting happy mood interestingly had higher A1c than those with sad/depressed mood (10.7 vs 9.4 %, p = 0.04). On multiple linear regression analysis, frequency of BS checks, home supervision and mood were the most significant predictors of A1c and altogether explained 20% of the variability in A1c. CONCLUSION: Frequent BS monitoring is associated with lower A1c. Supervision at home and school did not improve A1c, but it was self-reported information. Mood did not affect A1c contrary to that reported in other studies.

Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita.

BACKGROUND: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). Another rare cause of PAI in children is autoimmune adrenal disease (AAD) which could be either isolated or as part of autoimmune polyglandular syndrome. Antibody to major auto-antigen, 21-hydroxylase, is highly specific for AAD. METHODS: We report a now 19-month-old male with PAI due to NR0B1 gene mutation and positive adrenal antibodies. Initially, he presented at 15 days of life with isolated hypoaldosteronism which later unfolded into complete PAI. Data analysis was done via retrospective chart review. RESULTS: Genetic analysis of the NR0B1 gene revealed a known hemizygous mutation in c.1069C>T; p.Gln357X. Simultaneously, he was noted to have positive 21-hydroxylase antibodies. CONCLUSION: According to our knowledge, this is the first case in the literature with NR0B1 mutation causing adrenal insufficiency with coexistent positive adrenal antibodies. In addition to his already compromised adrenal function due to NR0B1 mutation, he is now at risk for the development of associated autoimmune conditions requiring close follow-up.

Study of glucose profiles with continuous glucose monitoring in adolescents with poorly controlled type 2 diabetes mellitus.

AIM: To evaluate glycemic excursions in adolescents with poorly controlled type 2 diabetes mellitus (DM2). METHODS: Seventeen adolescents (12 F/5 M) underwent glucose monitoring for 3 days using a continuous glucose monitoring system (CGMS). Glucose measurements were divided into periods of euglycemia, hyperglycemia, and hypoglycemia. The percentage of each period, average glucose concentration per 24 h, day and night, the number of excursions, and area under the curve (AUC) of glucose >150 mg/dl and <70 mg/dl were calculated. RESULTS: On average, patients remained in euglycemia for 28.5%, hyperglycemia for 70%, and hypoglycemia 1.3% of the total day. Hyperglycemic excursions were more frequent during the day. Hypoglycemic events were more frequent during the night. 24-h average glucose, duration of glucose >150 mg/dl, and AUC >150 mg/dl correlate with HbA1c and fructosamine to varying degrees. CONCLUSION: Continuous glucose monitoring provide valuable information on glucose excursions in adolescents with poorly controlled DM2 and may be helpful in improving metabolic control of poorly controlled adolescents with DM2.

Celiac disease in African American children with type 1 diabetes mellitus in inner city Brooklyn.

OBJECTIVE: There is a strong evidence for association between type 1 diabetes and Celiac Disease. Up to 8% of patients with type1 diabetes have characteristic features of CD on small intestinal biopsy. Type 1 diabetics who have HLA DQ2 or DQ8 are at risk for CD. However most of this data is from studies conducted in Europe, with mostly Caucasian population. This study aims to identify the prevalence of celiac disease in African American children with Type1 diabetes in inner city Brooklyn, New York. METHODS: IgA and IgG Antigliadin antibodies, IgA tissue transglutaminase and HLA typing was measured in blood collected from 34 children with type1 diabetes mellitus. Patients with positive anti tissue transglutaminase antibody underwent small intestinal biopsy. RESULTS: 17 patients had elevated IgG AGA, none showed elevated IgA AGA. Only one patient had elevated IgA and anti tTG levels, and a normal small intestinal biopsy. 28 patients had HLA DQ2 or DQ8 present. CONCLUSIONS: 94% of the African American children with type1 diabetes were serology negative for celiac disease inspite of having the predisposing HLA haplotype. Only one patient was positive for anti tTG antibody, with a negative small intestinal biopsy, the prevalence of celiac disease in this population may not be similar to the other populations. Pediatric Endocrinology in review 990,2008.

Mauriac syndrome in a 3-year-old boy.

OBJECTIVE: To report a case of Mauriac syndrome in a young child with poorly controlled type 1 diabetes mellitus. METHODS: We describe the typical features of Mauriac syndrome and review the clinical, laboratory, and ultrasound findings and follow-up results in our current patient. RESULTS: Hepatomegaly, growth impairment, and cushingoid features characterize Mauriac syndrome. Most frequently, it is seen in adolescents and young adults with a history of poor glycemic control. In our current patient, a 3-year-old boy with type 1 diabetes mellitus of 2 years' duration, Mauriac syndrome developed in the context of a disrupted social environment. His liver enzyme derangement, hepatomegaly, and growth improved once euglycemia was achieved. CONCLUSION: Although Mauriac syndrome is currently uncommon, close monitoring of children with type 1 diabetes is important to maintain optimal glycemic control and prevent such an occurrence.

Type 2 diabetes mellitus in African-American adolescents: impaired beta-cell function in the face of severe insulin resistance.

We have previously demonstrated abnormalities in insulin secretion in adolescents with type 2 diabetes mellitus (DM2) in response to the mixed meal test and to glucagon. In order to further assess beta-cell function in DM2, we measured insulin and C-peptide responses to oral glucose in adolescents with DM2 in comparison to non-diabetic obese and lean adolescents. We studied 20 patients with DM2, 25 obese adolescents with matching body mass index (BMI) (33.8 +/- 1.4 vs 34.3 +/- 1.0 kg/m2), and 12 non-obese control adolescents (BMI 22.6 +/- 0.6 kg/m2). Mean age, sex and sexual maturation did not differ between the three groups. All adolescents with DM2 had negative islet cell antibodies (ICA); five patients were on diet and 15 on insulin treatment. Fasting lipid profiles were determined in all participants. Plasma glucose and serum C-peptide and insulin levels were measured at 0, 30, 60, 90, and 120 min after an oral glucose load. The C-peptide increment (deltaCP) was calculated as peak minus fasting C-peptide. Area under the curve (AUC) was estimated using the trapezoid method. Insulin resistance was estimated using the HOMA model (HOMA-IR). The first phase of insulin secretion (PH1) was computed using a previously published formula. Serum triglyceride levels were significantly higher in the patients with DM2 compared to the non-obese controls (1.4 +/- 0.1 vs 0.9 +/- 0.1 mmol/l; p = 0.02). Plasma glucose AUC was greater in the patients with DM2 compared to the obese and non-obese control groups (1,660 +/- 130 vs 717 +/- 17 vs 647 +/- 14 mmol/l x min; p < 0.0001). ACP was lower in adolescents with DM2 than in obese and non-obese adolescents (761 +/- 132 vs 1,721 +/- 165 vs 1,225 +/- 165 pmol/l; p < 0.001). Insulin AUC was lower in the patients with DM2 compared to obese controls (888 +/- 206 vs 1,606 +/- 166 pmol/l x h; p = 0.009), but comparable to that of the non-obese controls (888 +/- 206 vs 852 +/- 222 pmol/l x h; p = 0.9). Insulin AUC was also higher in the obese than in the non-obese group (p = 0.05). PH1 was significantly higher in the obese group compared to the patients with DM2 as well as to the non-obese controls (2,614 +/- 2,47.9 vs 929.6 +/- 403.5 vs 1,946 +/- 300.6 pmol/l, respectively; p = 0.001). PH1 was also higher in the non-obese controls than in the patients with DM2 (p = 0.05). HOMA-IR was three-fold higher in the patients with DM2 than in the BMI-matched obese group, and five-fold higher than in the lean controls (14.3 +/- 1.2 vs 5.4 +/- 0.8 vs 2.9 +/- 0.4; p = 0.0002). Adolescents with DM2 have dyslipidemia, a significant cardiovascular risk factor. Decreased beta-cell function is characteristic of adolescents with DM2 in the presence of severe insulin resistance.

Pancreatic beta-cell hyperactivity in morbidly obese adolescents.

beta-cell hyperactivity, with increased beta-cell mass in the pancreas, contributes to insulin oversecretion in response to insulin resistance. beta-cell mass expansion, also known as "endocrine pancreas plasticity", is an adaptation to variations in insulin demand, is generally observed in obese persons and in women during late pregnancy. In obese persons, increased free fatty acids contribute to beta-cell growth. It is believed that type 2 diabetes develops in those persons unable to respond to an increased insulin demand with a high rate of beta-cell proliferation. Impairment of insulin secretion may originate from a genetic predisposition as well as aggravated by high lipid and glucose levels. Better understanding of endocrine pancreas plasticity and its regeneration mechanisms could lead to new treatment modalities for type 2 diabetes. Review of literature of pancreatic beta-cell hyperactivity in obesity and its existence in morbidly obese adolescents is hereby presented.

Management of metabolic syndrome in morbidly obese children and adolescents.

The main goal in managing metabolic syndrome (MS) in children and adolescents is to prevent Type 2 DM and reduce the risk of future cardiovascular disease. Although frustrating and challenging for both patients and healthcare providers, the best strategy for managing MS is preventing obesity through promotion of lifestyle modifications that include weight reduction, prevention of excessive weight gain and increase physical activity. Different therapeutic options and medications for MS are discussed including side effects of each drug. Medication for MS should be given to children and adolescents only after attempts at lifestyle modification have failed. Medications for MS should be closely monitored for their side effects on patients, and their application supervised only by caregivers familiar with their use.

The prevalence of metabolic syndrome in inner city obese African-American youth.

BACKGROUND: In children and adolescents, obesity increases the risk of metabolic syndrome (MS). OBJECTIVE: We examined the prevalence of MS among obese and morbidly obese children and adolescents referred to an obesity clinic in a university-based hospital center. DESIGN/METHODS: A total of 194 obese (BMI > 95%) children and adolescents were evaluated. Fasting glucose, insulin, lipid panel, BMI, blood pressures were obtained. Main outcome measures were prevalence of components of MS by modified National Cholesterol Education Program (NCEP or Adult Treatment Panel 111 (ATP 111), with MS defined as > or = 3 components. RESULTS: There were 113 females (58%) and 81 males (42%); mean age of the cohort was 11.9 years (range: 3.4-18.8 years). One hundred seventy four (90%) of the cohort were African-American, 14 (7%) were Hispanic and 6 (3%) were others. Mean BMI z- score was 2.5 and ranged from 1.7 to 4.8. Thirty five percent of the total cohort had MS. Among the morbidly obese patients (BMI z-score > 2.5), the prevalence of the MS increased to 44%. Impaired fasting glucose (5.8 %), impaired glucose tolerance (6.5%) and silent diabetes mellitus (2.4%) were also identified. CONCLUSIONS: One third of obese patients referred to a hospital-based obesity center had the MS and nearly half of morbidly obese children and adolescents had MS.

Transient pituitary dysfunction, empty sella, pseudotumor cerebri in a morbidly obese adolescent.

We report a 16-year-old morbidly obese African-American female who developed pseudotumor cerebri, partially empty sella syndrome and transient central hypothyroidism. After reduction of the increased intracranial pressure by lumbar puncture, normalization of the thyroid function occurred. The mechanism of the transient pituitary dysfunction in relation to the pseudotumor cerebri and empty sella is discussed.

Plasminogen activator inhibitor-1 and tissue-plasminogen activator in minority adolescents with type 2 diabetes and obesity.

Increased plasminogen activator inhibitor-1 (PAI-1) and decreased tissue-plasminogen activator (t-PA) activities lead to impaired fibrinolysis, which is critical for cardiovascular disease. We studied these hemostatic factors at fasting state and after an oral fat load in 12 type 2 diabetic and 17 nondiabetic obese adolescents, matched for age, sex, body mass index, and sexual maturation. Plasma PAI-1, t-PA, and glucose as well as serum C-peptide, insulin, total cholesterol, triglyceride, and HDL and LDL cholesterol levels were measured at 0, 2, 4, and 6 h after the fat load. Metabolic responses were expressed as the area under the curve (AUC). PAI-1 activities were significantly greater in patients than in control subjects [fasting, 23.4 +/- 2.6 versus 12.9 +/- 2.0 U/mL (p < 0.004); AUC, 101.7 +/- 12.1 versus 57.6 +/- 6.5 U . h [corrected] . mL(-1) (p < 0.003)]. Fasting t-PA activities were significantly lower in the patients than in the control subjects (0.8 +/- 0.3 versus 6.5 +/- 2.7 U/mL; p < 0.001). Triglyceride was the only lipid parameter that was significantly different in the patients than in the control subjects [fasting, 1.5 +/- 0.2 versus 0.9 +/- 0.1 mM (p < 0.05); AUC, 15.7 +/- 2.9 versus 7.9 +/- 0.6 mmol . h(-1) . L(-1) (p < 0.02)]. The PAI-1 activities decreased significantly during the loading tests (p < 0.0001), whereas the t-PA activities did not change. Insulin resistance estimated by the homeostasis model assessment was greater in the patients than in the control subjects (14.4 +/- 2.8 versus 4.6 +/- 0.7; p < 0.0001). We conclude that elevated PAI-1 and diminished t-PA activities, suggestive of suppressed fibrinolysis, are present in our adolescents with type 2 diabetes; adding another risk factor for cardiovascular disease and acute high fat load does not further negatively affect this suppressed fibrinolysis.

Postprandial hyperlipidemia after a fat loading test in minority adolescents with type 2 diabetes mellitus and obesity.

The continuing increase in the incidence of type 2 diabetes mellitus (DM2) and obesity in children and adolescents is attributable to excessive caloric intake. Abnormal lipid metabolism in the postprandial state leads to long exposure of the vasculature to hyperlipidemia. Most children and adolescents with DM2 are obese, and many have fasting hypertriglyceridemia. Clustering of hyperlipidemia, DM2 and obesity increases the risk for cardiovascular disease. We therefore studied lipids, insulin, C-peptide, and glucose in response to an oral fat load simulating the fat content of a high-fat, fast-food meal in 12 type 2 diabetic obese, 15 non-diabetic obese, and 12 non-diabetic non-obese (control) adolescents (aged 10-19 yr; 87% African-Americans). All three groups were age-, sex-, and sexual maturation-matched. Mean body mass indices were similar in the diabetes and obese groups (32.7 +/- 1.1 vs 35.8 +/- 1.6 kg/m2). All patients with DM2 had fasting C-peptide > 0.2 nmol/l (0.7 ng/ml) and negative diabetes-associated autoantibodies. Serum total cholesterol, triglyceride, high- and low-density lipoprotein cholesterol, insulin, C-peptide, and plasma glucose levels were measured at 0, 2, 4, and 6 h after the fat load. The area under the curve (AUC) was calculated by trapezoidal estimation. Triglyceride AUC was significantly greater in the diabetes group than in the other two groups (15.7 +/- 2.9 vs 9.2 +/- 0.7 and 7.5 +/- 0.7 mmol x h/l [1389 +/- 258 vs 819 +/- 60 and 663 +/- 62 mg x h/dl]; p < 0.02 and <0.004, respectively), as were insulin, C-peptide, and glucose AUCs. Incremental triglyceride response (delta triglyceride = peak - fasting) in the diabetes group was significantly higher than that in the control group (2.1 +/- 0.7 vs 0.8 +/- 0.1 mmol/l 189.7 +/- 58.4 vs 71.2 +/- 11.1 mg/dl]; p < 0.04). Insulin resistance was estimated using the homeostasis model assessment (HOMA), which was greater in the diabetes group than in the obese and control groups (14.4 +/- 2.8 vs 5.2 +/- 0.8 and 3.2 +/- 0.4; p < 0.001 and < 0.0001, respectively). The diabetes group was divided into subgroups of high and normal fasting triglycerides on the basis of triglyceride levels above and below the 95th percentile. The delta triglyceride in the subgroup with high fasting triglycerides was substantially greater than in the subgroup with normal fasting triglycerides (3.4 +/- 1.1 vs 0.8 +/- 0.2 mmol/l [305.2 +/- 96.8 vs 74.2 +/- 18.0 mg/dl]; p < 0.001). Total cholesterol and triglyceride AUCs were much greater in the high vs normal fasting triglycerides subgroup (33.0 +/- 2.9 vs 24.2 +/- 1.9 and 23.6 +/- 3.5 vs 7.8 +/- 0.6 mmol x h/l [1274 +/- 113 vs 934 +/- 72 and 2085 +/- 309 vs 692 +/- 49 mg x h/dl]; p < 0.02 and <0.0001, respectively), as were insulin and C-peptide AUCs. HOMA was greater in the high vs normal fasting triglycerides subgroup (20.8 +/- 4.0 vs 8.0 +/- 1.6; p < 0.0001). In addition to elevated plasma glucose levels, there were no significant differences in either insulin or lipid parameters among the diabetes subgroup with normal fasting triglycerides, the obese group, and controls. Our data suggest that postprandial hyperlipidemia in response to a fat loading test is present in adolescents with DM2 who already have fasting hypertriglyceridemia. The degree of insulin resistance as an underlying abnormality--not DM per se--determines the degree of postprandial lipemia.

Autoantibodies in children with type 2 diabetes mellitus.

To evaluate the frequency of autoantibodies to glutamic acid decarboxylase (GAD), protein tyrosine phosphatase-like protein (IA-2), and insulin (IAA) in children with type 2 diabetes mellitus (DM), we studied 37 children and adolescents whose type 2 DM was defined by fasting and 90-min standard liquid meal-stimulated serum C-peptide levels of >0.2 and >0.5 nmol/l (0.7 and 1.5 ng/ml), respectively. Mean fasting-stimulated serum C-peptide levels were 1.1 +/- 0.10 nmol/l (3.38 +/- 0.29 ng/ml) and 1.9 +/- 0.17 nmol/l (5.79 +/- 0.50 ng/ml), respectively. Eleven out of 37 patients (29.7%) were positive for at least one autoantibody: 8.1% (n = 3) had positive GAD, 8.1% (n = 3) had positive IA-2, and 27% (n = 10) had positive IAA. Nine of the 10 IAA-positive patients were on insulin treatment at the time of testing. Three of the 10 IAA-positive patients were also positive for GAD or IA-2. Since insulin treatment can stimulate IAA, we considered this to be less informative in classifying autoimmunity in DM. Therefore, GAD and IA-2 were considered primary autoimmune markers. Four out of 37 patients (10.8%) were positive for GAD (n = 3) or IA-2 (n = 3) or both (n = 2). Thus, low (10.8%) frequency of autoimmunity in children and adolescents is consistent with their clinical classification of type 2 DM based on the presence of residual C-peptide.

Management of hyperglycemia in minority children with type 2 diabetes mellitus.

This paper discusses management of hyperglycemia in minority children with type 2 diabetes mellitus (DM). Over the past several years the incidence of type 2 DM in minority children and adolescents has markedly increased. Intensive management of children with type 2 DM includes exercise, diet, insulin therapy, oral drug (metformin) therapy, and combination insulin-oral drug therapy. The results of a study of the efficacy of treatment modalities in 35 African-American children are presented. In the study, the patients were divided into two groups, one treated with diet or metformin therapy (20 children) and the other with insulin or a combination of insulin and metformin (15 children). All of the children in the study were negative for antibodies to glutamic acid decarboxylase. Plasma glucose and serum C-peptide concentrations were measured at 0, 30, 60, 90, and 120 min after ingestion of a liquid meal (Sustacal) (7 ml/kg with a maximum of 360 ml). The increase of C-peptide (ACP) in response to the mixed meal was calculated by peak minus fasting C-peptide. ACP was significantly higher in those children treated with diet/metformin than in those treated with insulin/insulin and metformin combination therapy (4.6 +/- 1.9 vs 21 +/- 1.6, p <0.01). Mean HbA1c at one-year follow up was lower for the diet/metformin patients than in the insulin/insulin and metformin group (7.0 +/- 2.8 vs 11.4 +/- 3.7, p <0.01). Our results indicate that in children with type 2 DM, there is more severe pancreatic beta-cell dysfunction in the group of children requiring insulin therapy.

Beta-cell response to intravenous glucagon in African-American and Hispanic children with type 2 diabetes mellitus.

The incidence of type 2 diabetes mellitus (DM) in children and adolescents has substantially increased over the past decade. The present study was conducted to evaluate the beta-cell response to intravenous glucagon (a non-glucose secretagogue) in children with type 2 DM. Twenty pediatric patients with type 2 DM were compared to 15 control subjects matched for body mass index and sexual maturation. The patients' ages ranged between 10 and 19 years. The duration of DM ranged from 1 to 5 years. Nine patients were on insulin treatment and 11 were on diet alone (3 patients) or metformin (8 patients). The criteria for type 2 DM were absent islet cell (IA-2) and glutamic acid decarboxylase (GAD65) antibodies and a fasting serum C-peptide level of > or = 0.23 nmol/l. Plasma glucose and serum C-peptide levels were determined in the fasting state and six minutes after an intravenous injection of 1 mg of glucagon. The fasting and stimulated plasma glucose levels and the fasting serum C-peptide levels (1.02 +/- 0.43 vs 0.79 +/- 0.26 nmol/l, p < 0.05) were higher in the patients with DM compared to weight-matched control subjects. While the absolute C-peptide responses to glucagon were not different between the two groups, the stimulated C-peptide to glucose ratios were significantly lower in the patients with DM compared to controls (0.039 +/- 0.026 vs 0.062 +/- 0.033, p < 0.05). Patients with DM treated with diet or oral therapy had significantly greater basal and stimulated C-peptide concentrations, incremental C-peptide, and C-peptide to glucose ratios than patients on insulin treatment. Both the fasting and the stimulated C-peptide levels were inversely correlated with the duration of DM (r = -0.53, p < 0.05). HbA1c at one year follow-up was inversely correlated with glucagon-stimulated C-peptide levels at the time of the study (r = -0.658, p < 0.01) and positively correlated with the duration of diabetes (r = 0.671, p = 0.002). The apparently normal serum C-peptide levels measured after glucagon challenge in these children with type 2 DM reflect their higher glucose levels. The lower stimulated C-peptide to glucose ratios in these children with type 2 DM compared to normal controls demonstrate their diminished beta-cell response to intravenous glucagon, a non-glucose secretagogue. Among the patients with DM, a higher glucagon-stimulated serum C-peptide response was associated with diet/metformin treatment, a shorter duration of DM and predicted improved glycemic control up to one year later. Thus, the fasting and glucagon-stimulated serum C-peptide levels provide an estimate of the potential insulin secretory capacity of the beta-cell and may predict glycemic control in pediatric type 2 DM.

Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.

Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.