ascorbic-acid and Developmental-Disabilities

Scurvy, the disease resulting from vitamin C deficiency, is perceived as being rare and occurring predominantly in the past. However, scurvy continues to exist and may be encountered in children with medical/developmental conditions and/or restricted diet. Diagnosis can be challenging given the perceived rarity of the condition and nonspecific symptoms, including gingival disease.. We present a series of two cases of scurvy in which the affected children presented to medical attention with dental complaints. Additional cases of scurvy are described, based on the literature review of case reports/series published in the last 10 years.. Literature review yielded 77 relevant case reports published in the English language since 2009. Most affected children had a previous diagnosis of a medical or developmental condition (especially autism spectrum disorder). Intraoral features (gingival swelling, pain, and bleeding) were noted in most of the identified cases of scurvy. Improvement in the oral features of scurvy occurred within days of vitamin C therapy initiation.. Recognizing classic signs and symptoms of scurvy enables prompt diagnosis and avoids invasive investigations. Dentists may be in a unique position to facilitate prompt and accurate diagnosis of a condition that is relatively easy and safe to treat once identified.

Topics: Ascorbic Acid; Autism Spectrum Disorder; Child; Developmental Disabilities; Gingival Diseases; Humans; Scurvy

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

Topics: Anemia, Iron-Deficiency; Ascorbic Acid; Bile Acids and Salts; Child, Preschool; Developmental Disabilities; Drug Therapy, Combination; Electron Transport; Electron Transport Complex III; Humans; Male; Metabolism, Inborn Errors; Pruritus; Vitamin K

Topics: Adult; Ascorbic Acid; Behavior Therapy; Child; Chronic Disease; Common Cold; Developmental Disabilities; Humans; Minerals; Neoplasms; Orthomolecular Therapy; Risk Factors

Free oxygen radicals and proinflammatory cytokines are important causes for brain injury in neonates with hypoxic ischemic encephalopathy (HIE). Our objectives were to test the hypothesis that a combination of antioxidants (ascorbic acid) and anti-inflammatory agents (ibuprofen) can ameliorate the brain injury in HIE and improve neurodevelopmental outcomes when given to term infants immediately after birth.. In a prospective, randomized, double-blinded controlled trial, 60 asphyxiated term infants were assigned to one of two groups, intervention and control. The intervention group (n=30) received intravenous ascorbic acid and oral ibuprofen for 3 days; and the control group (n=30) received similar volumes of a placebo. We measured a panel of cytokines at enrollment and administered the treatment drugs within 2 h after birth. Neurological evaluations and developmental screenings were performed for all survivors at 6 months of age.. The Intervention and Control groups did not differ in the severity of HIE at enrollment, the concentrations of IL-1 beta and IL-6, the incidence of mortality (37 vs 33%), the incidence of neurological abnormalities at hospital discharge (47 vs 55%) and the incidence of developmental delay at 6 months of age (32 vs 40%), respectively. None of the observed complications were related to intervention. Serum interleukin (IL)-1 beta and IL-6 concentrations correlated positively with the severity of HIE at birth (P<0.01), whereas only serum IL-6 correlated with neurodevelopmental outcome at 6 months (P<0.001).. Early administration of ascorbic acid and ibuprofen did not affect outcomes in infants with perinatal asphyxia. This study does not explain whether our intervention was not effective in blocking free radicals and inflammatory cytokines, if the dosing and route of administration were inadequate, or if other mediators existed that could have a more powerful role in brain injury during hypoxia-ischemia.

Topics: Anti-Inflammatory Agents; Antioxidants; Ascorbic Acid; Asphyxia Neonatorum; Developmental Disabilities; Double-Blind Method; Drug Therapy, Combination; Female; Humans; Hypoxia-Ischemia, Brain; Ibuprofen; Infant, Newborn; Male

Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can affect the skeletal and central nervous systems. We have identified loss-of-function variants in COPB2, a component of the coatomer complex I (COPI), in individuals presenting with osteoporosis, fractures, and developmental delay of variable severity. Electron microscopy of COPB2-deficient subjects' fibroblasts showed dilated endoplasmic reticulum (ER) with granular material, prominent rough ER, and vacuoles, consistent with an intracellular trafficking defect. We studied the effect of COPB2 deficiency on collagen trafficking because of the critical role of collagen secretion in bone biology. COPB2 siRNA-treated fibroblasts showed delayed collagen secretion with retention of type I collagen in the ER and Golgi and altered distribution of Golgi markers. copb2-null zebrafish embryos showed retention of type II collagen, disorganization of the ER and Golgi, and early larval lethality. Copb2

Topics: Animals; Ascorbic Acid; Bone and Bones; Brain; Child; Child, Preschool; Coat Protein Complex I; Coatomer Protein; Collagen Type I; Developmental Disabilities; Embryo, Nonmammalian; Endoplasmic Reticulum; Female; Fibroblasts; Gene Expression Regulation, Developmental; Golgi Apparatus; Haploinsufficiency; Humans; Intellectual Disability; Male; Mice; Osteoporosis; RNA, Small Interfering; Severity of Illness Index; Zebrafish

Topics: Ascorbic Acid; Child, Preschool; Developmental Disabilities; Humans; Magnetic Resonance Imaging; Male; Scurvy

Scurvy is a disease that results from a vitamin C deficient diet. Since vitamin C is available in many food products, and especially in citrus fruits, the disease is rare in developed countries. Clinical manifestations of scurvy include general weakness, cutaneous and gum bleeding, pain in the lower limbs and inability to stand and walk (pseudo paralysis). The diagnosis of scurvy requires a high level of clinical suspicion, typical radiographic features and low Levels of vitamin C in the plasma. We report a case of a 7-year-old patient with a medical history of hydrocephalus, failure to thrive and severe psychomotor retardation due to complications of prematurity. On admission she had gum bleeding, severe anemia, pain in the lower limbs and refused to stand and walk. According to her parents, her diet was restricted, without vegetables or fruit consumption. Our investigation ruled out coagulopathy, malignancy and infection. Serum vitamin C levels were low and radiographic findings were consistent with the diagnosis of scurvy. The patient improved rapidly after the initiation of vitamin C supplements. Despite being rare, scurvy should be considered in the differential diagnosis of bleeding and pain in the lower limbs, especially in a malnourished patient.

Topics: Anemia; Ascorbic Acid; Blood Transfusion; Child; Child Nutrition Disorders; Citrus; Developmental Disabilities; Enteral Nutrition; Failure to Thrive; Feeding Behavior; Female; Gingival Hemorrhage; Humans; Infusions, Intravenous; Mobility Limitation; Musculoskeletal Pain; Phytotherapy; Radiography; Scurvy; Treatment Outcome

Scurvy is well known since ancient times, but it is rarely seen in the developed world today owing to the discovery of its link to the dietary deficiency of ascorbic acid. It is very uncommon in the pediatric population, and is usually seen in children with severely restricted diet attributable to psychiatric or developmental disturbances. The condition presents itself by the formation of perifollicular petechiae and bruising, gingival inflammation and bleeding, and, in children, bone disease. We report a case of scurvy in a 10-year-old developmentally delayed boy who had a diet markedly deficient in vitamin C resulting from extremely limited food choices. He presented with debilitating bone pain, inflammatory gingival disease, and perifollicular hyperkeratosis. The diagnosis was made based on clinical and radiographic findings. The importance of diet history is emphasized. We present this case with the aim to help the clinician identify scurvy and implement treatment for a potentially fatal but easily curable disease.

Topics: Ascorbic Acid; Ascorbic Acid Deficiency; Child; Developmental Disabilities; Diagnosis, Differential; Diet; Humans; India; Male; Scurvy

Scurvy has been known since ancient times, but the discovery of the link between the dietary deficiency of ascorbic acid and scurvy has dramatically reduced its incidence over the past half-century. Sporadic reports of scurvy still occur, primarily in elderly, isolated individuals with alcoholism. The incidence of scurvy in the pediatric population is very uncommon, and it is usually seen in children with severely restricted diets attributable to psychiatric or developmental problems. The condition is characterized by perifollicular petechiae and bruising, gingival inflammation and bleeding, and, in children, bone disease. We describe a case of scurvy in a 9-year-old developmentally delayed girl who had a diet markedly deficient in vitamin C resulting from extremely limited food preferences. She presented with debilitating bone pain, inflammatory gingival disease, perifollicular hyperkeratosis, and purpura. Severe hypertension without another apparent secondary cause was also present, which has been previously undescribed. The signs of scurvy and hypertension resolved after treatment with vitamin C. The diagnosis of scurvy is made on clinical and radiographic grounds, and may be supported by finding reduced levels of vitamin C in serum or buffy-coat leukocytes. The response to vitamin C is dramatic. Clinicians should be aware of this potentially fatal but easily curable condition that is still occasionally encountered among children.

Topics: Ascorbic Acid; Ascorbic Acid Deficiency; Child; Developmental Disabilities; Diet; Epilepsy; Female; Fruit; Humans; Knee Joint; Magnetic Resonance Imaging; Radiography; Scurvy

Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders. There is much evidence for a role of peroxidation processes in the pathogenesis of NCL, although this would certainly be indirect. Reduced total antioxidant activity of cerebrospinal fluid (CSF) has been reported in NCL. Since ascorbic acid represents a major antioxidant in CSF, we have now determined this parameter in CSF of two patients with the infantile form of NCL (Santavuori-Haltia disease). However, the ascorbic acid values obtained (103.6 and 181.3 microM) are comparable with control values from the literature as well as with those measured in groups of children with neurologic/psychiatric diseases other than NCL (mean +/- standard deviation: 137.1+/-41.3 microM), with suspected (but excluded) meningitis (124.1+/-34.0 microM) and acute lymphoblastic leukemia (131.7+/-17.0 microM). Our results indicate that CSF ascorbic acid concentrations are not affected by peroxidation processes in infantile NCL, but reveal a sharply decreased ascorbic acid concentration in one of the non-NCL patients, possibly associated with his convulsions and/or his anticonvulsant therapy.

Topics: Ascorbic Acid; Child; Child, Preschool; Developmental Disabilities; Female; Humans; Infant; Male; Mental Disorders; Nervous System Diseases; Neuronal Ceroid-Lipofuscinoses; Reference Values