-
The Pan African Medical Journal 2021Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants... (Review)
Review
Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Approximately one half of this cases exhibit abnormal movements, variously described as tremors, twitches, chorea, or myoclonus. Urinary concentrations of methylmalonic acid and homocysteine are characteristically elevated in vitamin B12 deficiency. Hyperglycinuria is sometimes present. The early diagnosis and treatment of vitamin B12 deficiency is crucial for significant neurological impairment and long-term prognosis. Treatment with vitamin B12 corrects these metabolic abnormalities very rapidly (within a few days). Vitamin B12 supplementation of pregnant women may prevent neurological and neuroradiological findings of the infants. Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be aware of the severe and not fully-reversible damages caused by insufficient nutritional intake of vitamin B12 during pregnancy and lactation. Therefore, efforts should be directed to prevent its deficiency in pregnant and breastfeeding women on vegan diets and their infants. It is also important to take the nutritional history of both infants and their mothers for the early prevention and treatment. Here an interesting case of vitamin B12 deficiency in a 10-month-old boy presented with psychomotor regression, hypotonia and lethargy.
Topics: Breast Feeding; Dietary Supplements; Female; Humans; Infant; Male; Muscle Hypotonia; Pregnancy; Prenatal Care; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 34046142
DOI: 10.11604/pamj.2021.38.237.20967 -
Current Pediatric Reviews 2024Worldwide, iron deficiency anemia is the most prevalent nutritional deficiency disorder and the leading cause of anemia in children, especially in developing countries.... (Review)
Review
BACKGROUND
Worldwide, iron deficiency anemia is the most prevalent nutritional deficiency disorder and the leading cause of anemia in children, especially in developing countries. When present in early childhood, especially if severe and prolonged, iron deficiency anemia can result in neurodevelopmental and cognitive deficits, which may not always be fully reversible even following the correction of iron deficiency anemia.
OBJECTIVE
This article aimed to familiarize physicians with the clinical manifestations, diagnosis, evaluation, prevention, and management of children with iron deficiency anemia.
METHODS
A PubMed search was conducted in February 2023 in Clinical Queries using the key term "iron deficiency anemia". The search strategy included all clinical trials (including open trials, non-randomized controlled trials, and randomized controlled trials), observational studies (including case reports and case series), and reviews (including narrative reviews, clinical guidelines, and meta-analyses) published within the past 10 years. Google, UpToDate, and Wikipedia were also searched to enrich the review. Only papers published in the English literature were included in this review. The information retrieved from the search was used in the compilation of the present article.
RESULTS
Iron deficiency anemia is most common among children aged nine months to three years and during adolescence. Iron deficiency anemia can result from increased demand for iron, inadequate iron intake, decreased iron absorption (malabsorption), increased blood loss, and rarely, defective plasma iron transport. Most children with mild iron deficiency anemia are asymptomatic. Pallor is the most frequent presenting feature. In mild to moderate iron deficiency anemia, poor appetite, fatigability, lassitude, lethargy, exercise intolerance, irritability, and dizziness may be seen. In severe iron deficiency anemia, tachycardia, shortness of breath, diaphoresis, and poor capillary refilling may occur. When present in early childhood, especially if severe and prolonged, iron deficiency anemia can result in neurodevelopmental and cognitive deficits, which may not always be fully reversible even with the correction of iron deficiency anemia. A low hemoglobin and a peripheral blood film showing hypochromia, microcytosis, and marked anisocytosis, should arouse suspicion of iron deficiency anemia. A low serum ferritin level may confirm the diagnosis. Oral iron therapy is the first-line treatment for iron deficiency anemia. This can be achieved by oral administration of one of the ferrous preparations, which is the most cost-effective medication for the treatment of iron deficiency anemia. The optimal response can be achieved with a dosage of 3 to 6 mg/kg of elemental iron per day. Parenteral iron therapy or red blood cell transfusion is usually not necessary.
CONCLUSION
In spite of a decline in prevalence, iron deficiency anemia remains a common cause of anemia in young children and adolescents, especially in developing countries; hence, its prevention is important. Primary prevention can be achieved by supplementary iron or iron fortification of staple foods. The importance of dietary counseling and nutritional education cannot be overemphasized. Secondary prevention involves screening for, diagnosing, and treating iron deficiency anemia. The American Academy of Pediatrics recommends universal laboratory screening for iron deficiency anemia at approximately one year of age for healthy children. Assessment of risk factors associated with iron deficiency anemia should be performed at this time. Selective laboratory screening should be performed at any age when risk factors for iron deficiency anemia have been identified.
Topics: Adolescent; Child; Humans; Child, Preschool; Anemia, Iron-Deficiency; Iron; Anemia
PubMed: 37497686
DOI: 10.2174/1573396320666230727102042 -
Advances in Experimental Medicine and... 2018Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25,... (Review)
Review
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2-5% of all cases. Overall, autosomal recessive RP accounts for about 15-20% of all cases of RP. Clinically, it shows all the classic features of RP, such as attenuated retinal blood vessels, intraretinal pigmentation, waxy pallor of the optic disc, and hyperfluorescent rings on fundus autofluorescence (FAF) (Figs. 25.1, 25.2 and 25.3). The ring is suggestive of increased metabolic burden of the corresponding retinal pigment epithelium (RPE).
Topics: Fundus Oculi; Humans; Retinal Pigment Epithelium; Retinitis Pigmentosa
PubMed: 30578498
DOI: 10.1007/978-3-319-95046-4_25 -
Asian Pacific Journal of Cancer... 2016Leukemia is the most common neoplastic disease of the white blood cells which is important as a pediatric malignancy. Oral manifestations occur frequently in leukemic... (Review)
Review
Leukemia is the most common neoplastic disease of the white blood cells which is important as a pediatric malignancy. Oral manifestations occur frequently in leukemic patients and may present as initial evidence of the disease or its relapse. The symptoms include gingival enlargement and bleeding, oral ulceration, petechia, mucosal pallor, noma, trismus and oral infections. Oral lesions arise in both acute and chronic forms of all types of leukemia. These oral manifestations either may be the result of direct infiltration of leukemic cells (primary) or secondary to underlying thrombocytopenia, neutropenia, or impaired granulocyte function. Despite the fact that leukemia has long been known to be associated with oral lesions, the available literature on this topic consists mostly of case reports, without data summarizing the main oral changes for each type of leukemia. Therefore, the present review aimed at describing oral manifestations of all leukemia types and their dental management. This might be useful in early diagnosis, improving patient outcomes.
Topics: Disease Management; Granulocytes; Humans; Leukemia; Mouth Diseases; Neutropenia; Thrombocytopenia
PubMed: 27039811
DOI: 10.7314/apjcp.2016.17.3.911 -
Current Pediatric Reviews 2019Breath-holding spells are common, frightening, but fortunately benign events. Familiarity with this condition is important so that an accurate diagnosis can be made. (Review)
Review
BACKGROUND
Breath-holding spells are common, frightening, but fortunately benign events. Familiarity with this condition is important so that an accurate diagnosis can be made.
OBJECTIVE
To familiarize physicians with the clinical manifestations, diagnosis, evaluation, and management of children with breath-holding spells.
METHODS
A PubMed search was completed in Clinical Queries using the key term "breath-holding spells". The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. Only papers published in the English literature were included in this review. The information retrieved from the above search was used in the compilation of the present article.
RESULTS
Breath-holding spells affect 0.1 to 4.6% of otherwise healthy young children. The onset is usually between 6 and 18 months of age. The etiopathogenesis is likely multifactorial and includes autonomic nervous system dysregulation, vagally-mediated cardiac inhibition, delayed myelination of the brain stem, and iron deficiency anemia. Breath-holding spells may be cyanotic or pallid. The former are usually precipitated by anger or frustration while the latter are more often precipitated by pain or fear. In the cyanotic type, the child usually emits a short, loud cry, which leads to a sudden involuntary holding of the breath in forced expiration. The child becomes cyanosed, rigid or limp, followed by a transient loss of consciousness, and a long-awaited inspiration and resolution of the spell. In the pallid type, crying may be minimal or "silent". The apneic period in the pallid type is briefer than that in the cyanotic type prior to the loss of consciousness and posture. The episode in the pallid type then proceeds in the same manner as a cyanotic spell except that the child in the pallid type develops pallor rather than cyanosis. In both types, the entire episode lasts approximately 10 to 60 seconds. The spells usually disappear spontaneously by 5 years of age.
CONCLUSION
Although breath-holding spells are benign, they can be quite distressing to the parents. Confident reassurance and frank explanation are the cornerstones of treatment. Underlying cause, if present, should be treated. Interventions beyond iron supplementation may be considered for children with severe and frequent breath-holding spells which have a strong impact on the lifestyle of both the child and family.
Topics: Apnea; Breath Holding; Child; Child, Preschool; Cyanosis; Diagnosis, Differential; Female; Humans; Infant; Male; Pediatrics
PubMed: 30421679
DOI: 10.2174/1573396314666181113094047 -
Archives of Disease in Childhood Oct 2016Leukaemia is the most common cancer of childhood, accounting for a third of cases. In order to assist clinicians in its early detection, we systematically reviewed all... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Leukaemia is the most common cancer of childhood, accounting for a third of cases. In order to assist clinicians in its early detection, we systematically reviewed all existing data on its clinical presentation and estimated the frequency of signs and symptoms presenting at or prior to diagnosis.
DESIGN
We searched MEDLINE and EMBASE for all studies describing presenting features of leukaemia in children (0-18 years) without date or language restriction, and, when appropriate, meta-analysed data from the included studies.
RESULTS
We screened 12 303 abstracts for eligibility and included 33 studies (n=3084) in the analysis. All were cohort studies without control groups. 95 presenting signs and symptoms were identified and ranked according to frequency. Five features were present in >50% of children: hepatomegaly (64%), splenomegaly (61%), pallor (54%), fever (53%) and bruising (52%). An additional eight features were present in a third to a half of children: recurrent infections (49%), fatigue (46%), limb pain (43%), hepatosplenomegaly (42%), bruising/petechiae (42%), lymphadenopathy (41%), bleeding tendency (38%) and rash (35%). 6% of children were asymptomatic on diagnosis.
CONCLUSIONS
Over 50% of children with leukaemia have palpable livers, palpable spleens, pallor, fever or bruising on diagnosis. Abdominal symptoms such as anorexia, weight loss, abdominal pain and abdominal distension are common. Musculoskeletal symptoms such as limp and joint pain also feature prominently. Children with unexplained illness require a thorough history and focused clinical examination, which should include abdominal palpation, palpation for lymphadenopathy and careful scrutiny of the skin. Occurrence of multiple symptoms and signs should alert clinicians to possible leukaemia.
Topics: Abdominal Pain; Adolescent; Child; Child, Preschool; Contusions; Early Detection of Cancer; Exanthema; Fever; Gastrointestinal Diseases; Hemorrhage; Hepatomegaly; Humans; Infant; Infant, Newborn; Infections; Leukemia; Musculoskeletal Diseases; Recurrence; Skin Diseases; Splenomegaly
PubMed: 27647842
DOI: 10.1136/archdischild-2016-311251 -
Handbook of Clinical Neurology 2018The major symptoms of motion sickness are well known and include facial pallor, nausea and vomiting, and sweating, but it is poorly recognized that they actually reflect... (Review)
Review
The major symptoms of motion sickness are well known and include facial pallor, nausea and vomiting, and sweating, but it is poorly recognized that they actually reflect severely perturbed thermoregulation. Thus, the purpose of this chapter is to present and discuss existing data related to this subject. While hypothermia during seasickness was first noted nearly 150 years ago, detailed studies of this phenomenon were conducted only during the last two decades. Our own research confirmed that motion sickness-induced hypothermia is quite broadly expressed phylogenetically as, besides humans, it could be provoked in several other animals (rats, musk shrews, and mice). Evidence from human and animal experiments indicates that the physiologic mechanisms responsible for the motion sickness-induced hypothermia include cutaneous vasodilation and sweating (leading to an increase of heat loss) and reduced thermogenesis. Together, these results suggest that motion sickness triggers a highly coordinated physiologic response aiming to reduce body temperature. The chapter is concluded by presenting hypotheses of how and why motion sickness evokes this hypothermic response.
Topics: Animals; Body Temperature Regulation; Humans; Hypothermia; Motion Sickness; Nausea
PubMed: 30454606
DOI: 10.1016/B978-0-444-63912-7.00027-8 -
Journal of Ayub Medical College,... 2023We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers,...
We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers, photosensitivity, weight loss and hair fall. For the last 2 months, she had developed a dry cough with progressive shortening of breath. On examination, a cachexic lady with malar hyperpigmentation, alopecia, pallor, nail dystrophy and erythema over her hands and feet were noted. There were multiple punched-out skin ulcers of variable size over legs, arms and abdomen usually round in shape with well-defined even wound margins and scant serous discharge. Musculoskeletal examination revealed synovitis of both elbows and a few metacarpophalangeal and proximal interphalangeal joints. Chest X-ray and HRCT showed bilateral ground-glass opacification. Anti-Nuclear Antibody (ANA) was positive, 1:320, homogenous nuclear pattern. Anti-Ro antibody was highly positive and serum complement (C3, C4) levels were reduced. She was diagnosed with Lupus Vasculitis and started on steroids, mycophenolate mofetil and hydroxychloroquine.
Topics: Humans; Female; Adult; Mycophenolic Acid; Fever; Arthralgia; Vasculitis
PubMed: 38404096
DOI: 10.55519/JAMC-03-10849