Use of Continuous Glucose Monitoring System in Children with Type 1 Diabetes Mellitus in a Resource Limited Setting.

Background: Regular self-monitoring of blood glucose (SMBG) remains the mainstay method for diabetes monitoring. The major limitation of SMBG is poor compliance and it only provides a snapshot of glucose values at that point of time. Continuous glucose monitors (CGMs) are non-invasive devices which measure subcutaneous interstitial glucose for every five minutes and provide glucose variability throughout the day. Aim and Objective: To assess the effectiveness of intermittent continuous blood glucose monitoring in comparison with SMBG on the percentage reduction in HbA1c level in children with type 1 diabetes mellitus (DM). Methods: Children diagnosed with type 1 DM of age group 3-18 years were enlisted into the study. Participants were randomised to the study arm (CGMs+SMBG) or the control arm (SMBG alone). Subjects in the study group were given CGM along with regular SMBG for 14 days. The control group was asked to perform SMBG. HbA1c levels were measured in both groups after three months of intervention. Results: There were 62 children in each group. After three months, in the intervention group HbA1c level dropped from 11.23% ± 1.53% (Mean ± SD) to 10.14% ± 1.99%, in control group HbA1c level dropped from 11.62% ± 1.62% to 11.32% ± 1.57%. The fall in HbA1c level in intervention group is significant (p value -0.01). Conclusion: In a resource-limited setting, intermittent use of CGMs atleast once every two to three months will help in understanding the factors influencing glucose variation throughout the day and, with appropriate therapeutic modifications, will aid in achieving optimal glycaemic control.

Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis.

Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we reported a 12-year-old girl child patient with recurrent facial weakness with bilateral hearing impairment and multiple ulcerative lesions on lower limbs and elbows. On examination, she had lower motor neuron (LMN) facial palsy with conductive hearing loss. The investigations showed hyperphosphatemia (9.3 mg/dL) with normal serum calcium (10.4 mg/dL), alkaline phosphatase (147.9 U/L), parathyroid hormone (23.12 pg/mL), and renal function tests. Elevated serum calcium and phosphorus product (96.72 mg 2 /mL 2 ) and elevated renal tubular reabsorption of phosphate (TMPxGFR) value (9.16) were noted. Skeletal survey showed hyperostosis in the long bone diaphysis, vertebrae, ribs, pelvic bone, skull, and facial bones with narrowing of cranial ostium, characteristically without any peri-articular soft tissue calcifications. An angiogram showed multiple intravascular calcifications. She was managed with a low-phosphate diet, sevelamer, niacinamide, acetazolamide, sucroferric oxyhydroxide to lower serum phosphate level, and topical sodium thiosulfate ectopic cutaneous calcification. Exome sequencing showed novel homozygous inframe deletion of ACG in FGF23 gene exon 3 at c.374_376 delins position (p. Asp125del) in the proband and a mutation in the heterozygous state in the mother and elder sibling, thus confirming a molecular diagnosis of HFTC. Our case had a unique neurological presentation of recurrent bilateral lower motor nerve facial palsy, hearing loss, multiple ectopic cutaneous calcifications without peri-articular deposits, multiple intravascular, intracranial, and vertebral endplate calcification, which has not been reported earlier. The proband showed a novel pathogenic variant suggesting an expanding phenotype of HFTC.

A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis.

Biotinidase deficiency (BD) is a rare treatable cause of neurometabolic disorders. It is an autosomal recessive disorder that manifests with cutaneous and neurological manifestations. Spinal cord involvement is uncommon with only a few cases reported in the literature. A 6-year-old female child presented with progressive difficulty in walking since 2 months. At 6 months of age, the child was elsewhere evaluated for global developmental delay and suspected as metabolic disorders and started on megavitamins, following which the child was improved. For the past 2 years, she has stopped medicines. On examination, irritable, alopecia, eczema, hypotonia, and power of two-fifths in all four limbs, and exaggerated deep tendon reflexes. The magnetic resonance imaging (MRI) brain and spine showed T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities in periaqueductal gray matter, dorsal midbrain, pons, medulla, and cervical cord. She was suspected to have BD and confirmed by low enzyme levels and pathogenic variant in BTD . She was started on biotin supplements that resulted clinically dramatic improvement and MRI became normal within 4 weeks. Any child presenting with acute flaccid paralysis with brainstem and spinal cord noncompressive lesions on MRI, rare treatable conditions like BD should be considered in developing countries, like India, where still no universal newborn screening facilities are available.