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Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome. Till date only treatment available is enzyme replacement therapy which is neither cost effective nor easily available. Thus a multidisciplinary rehabilitation team set a goal oriented and well-coordinated approach and successfully rehabilitated the patient. To conclude early diagnosis, multidisciplinary, goal oriented and well-coordinated, rehabilitation team can be key in management of hurler syndrome.

Background: TCD (Transcranial Doppler) is a well-established study to predict Cerebrovascular stroke in SCD (Sickle cell disease). We aim to establish baseline TCD findings in Indian children with SCD and compare the results with the available STOP (Stroke prevention trial in Sickle Cell Anemia) protocol. We would also compare TCD findings in homozygous sickle cell disease and heterozygous sickle cell trait. Material and Methods: Seventy nine children with SCD were included in this study for one year period. TCD was performed and TAMMV (time-averaged maximum mean) velocity in the middle cerebral, anterior cerebral, posterior cerebral and internal carotid arteries was measured. Children were divided into two groups. Group I (56 homozygos–70.88%) and group II (23 heterozygos–29.11%). Results: In group I, 50 children fall in normal range with average TAMM velocity of 127.59 ± 17.48 cm/s. There was 1 (1.78%) abnormal result and 5 (8.9%) conditional results in group I. All results were normal in group II with average TAMM velocity of 116.33 ± 12.412 cm/sec. Middle cerebral artery was the only affected vessels amongst all. Conclusions: In our study, there was low prevalence of abnormal TCD results as compared to STOP protocol. The difference was significant in TAMM velocity between two groups, with all children being within normal range in group II. Result of this study differs from previous studies, done in western countries probably due to difference in haplotype.

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Background: Nearly one third intrauterine death of normally formed singleton fetuses are associated with IUGR coexisting with or without pregnancy induced hypertension (PIH). Abnormal fetal circulation is considered a major factor in fetal growth restriction, both as a cause and an indicator. Doppler ultrasound is a relatively new technique which merits investigations as a screening method for IUGR and PIH as both are associated with placental vascular pathology. The development of Doppler ultrasonographic technology, particularly during last 10 years, has provided an opportunity to obtain both qualitative and quantitative assessment of maternal and fetal hemodynamics using a non-invasive method. Objectives were to assess the role of color Doppler and spectral flow analysis in the management of pregnancy induced hypertension. Methods: It was a prospective observational study in which 50 pregnant women were taken as cases with pregnancy induced hypertension and 25 as matched controls without any high-risk factor. All patients were examined for colour Doppler spectral flow analysis. Detailed USG results in the form of maturity by biparietal diameter, head circumference, femoral length, abdominal circumference, liquor, and expected fetal weight were measured and noted. Doppler study of umbilical artery, fetal middle cerebral artery, both maternal uterine arteries and ductus venosus was carried out. Parameters in the form of resistive index (RI), pulsatility index (PI) and systolic/diastolic ratio (S/D) of all four arteries were taken. In ductus venosus waveform, changes in the 'a' wave were noted. All participants were followed up from the point of the recruitment up to the time of delivery. At the time of delivery, the mode of delivery, any complications, the Apgar score, weight of the baby, birth asphyxia and admission in NICU were noted. Results: The number of patients with PIH were highest in the age group of 21-25 years [n=31 (62%)]. IUGR of fetus occurred in 74% of the cases with PIH, while no any patients with IUGR fetus among the control group. 92% patients among uterine notches showed abnormal fetal outcome in the form of low birth weight, preterm delivery, LSCS for fetal distress, birth asphyxia or NICU admission of the neonate. Out of total 37 (74%) IUGR cases, 24 (65%) cases had fetoplacental Doppler abnormality. Out of total 6 cases with absent end-diastolic flow (AEDF) 4 cases had abnormal fetal outcome and 2 cases had delivered still-born babies. 20 out of 30 cases had abnormal fetal middle cerebral arterial Doppler (MCA) PI, out of which 19 patients had abnormal fetal outcome. 23 cases had abnormal CPR, out of them 20 (87%) cases had abnormal outcome and only 3 cases had normal fetal outcome. The parameters at the time of delivery are number of cases with delivery before 37 weeks of GA (63.3%), SGA babies (70%), LSCS for fetal distress (43.3%), and NICU admission (43.3%). Conclusions: Examining the maternal vessels using Doppler ultrasound, it is possible to determine the risk of complicatio...