Infantile anaemia

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm...

The hexokinase (HK) enzyme plays a key role in red blood cell energy production. Hereditary non-spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare disorder with only 12 different disease-associated variants identified. Here, we describe the clinical features and genotypes of four previously unreported patients with hexokinase 1 (HK1)-related HNSHA, yielding two novel truncating HK1 variants. The patients' phenotypes varied from mild chronic haemolytic anaemia to severe infantile-onset transfusion-dependent anaemia...

Biallelic pathogenic variants in CAD, that encode the multienzymatic protein required for de-novo pyrimidine biosynthesis, cause early infantile epileptic encephalopathy-50. This rare disease, characterized by developmental delay, intractable seizures and anaemia, is amenable to treatment with uridine. We present a patient with macrocytic anaemia, elevated haemoglobin-A2 levels, anisocytosis, poikilocytosis and target cells in the blood smear, and mild developmental delay. A next-generation sequencing panel revealed biallelic variants in CAD...

BACKGROUND: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. CASE REPORT: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected...

Superoxide dismutase-1 is a ubiquitously expressed antioxidant enzyme. Mutations in SOD1 can cause amyotrophic lateral sclerosis, probably via a toxic gain-of-function involving protein aggregation and prion-like mechanisms. Recently, homozygosity for loss-of-function mutations in SOD1 has been reported in patients presenting with infantile-onset motor neuron disease. We explored the bodily effects of superoxide dismutase-1 enzymatic deficiency in eight children homozygous for the p.C112Wfs*11 truncating mutation...

Infantile malignant osteopetrosis (IMOP) is a rare bone resorptive disorder with an autosomal recessive inheritance pattern. It is characterized by increased bone density due to osteoclastic failure in differentiation or function. The clinical manifestations of IMOP start at birth or infancy with varied rings according to the type and degree of osteopetrosis. We presented a 3-year-old female patient referred to us due to chronic anaemia six months ago. The physical examination revealed hepatosplenomegaly, axial hypotonia, and visual impairment...

BACKGROUND AND OBJECTIVES: Maternal antibodies are transferred to the child, predominantly IgG, via the transplacental route, and mostly IgA through breast milk. Cases reported by us and others have shown the transfer of red cell allo-antibodies through breast milk. This study was conducted to assess the presence of isohaemagglutinins in breast milk, the range of titres, and the correlation between breast milk and maternal plasma titres. MATERIALS AND METHODS: A total of 176 mothers were recruited in this study...

Maternal and child malnutrition and anaemia remain the leading factors for health loss in India. Low birth weight (LBW) offspring of women suffering from chronic malnutrition and anaemia often exhibit insulin resistance and infantile stunting and wasting, together with increased risk of developing cardiometabolic disorders in adulthood. The resulting self-perpetuating and highly multifactorial disease burden cannot be remedied through uniform dietary recommendations alone. To inform approaches likely to alleviate this disease burden, we implemented a systems-analytical approach that had already proven its efficacy in multiple published studies...

A 7-week-old girl with a normal birth history suddenly developed respiratory distress while feeding. Cardiopulmonary resuscitation was initiated at home after she had a cardiac arrest and was continued in the emergency room but all efforts at resuscitation proved unsuccessful and she died 2 h after presentation. Investigations performed in the emergency room revealed that she had a significantly high white blood cell count and severe anaemia. The cause of death was identified as KMT2A -rearranged infantile acute lymphoblastic leukaemia based on cytogenetic tests...

BACKGROUND: Preventing infantile anaemia and ensuring optimal growth and development during early childhood, particularly in resource-constrained settings, represent an ongoing public health challenge. Current responses are aligned to treatment-based solutions, instead of determining the roles of its inter-related causes. This project aims to assess and understand the complex interplay of eco-bio-social-political factors that determine infantile anaemia to inform policy, research design and prevention practices...

Infantile anaemia has been a severe public health problem in China for decades. However, it is unclear whether there are regional differences in the prevalence of anaemia. In this study, we used data from the China Nutrition and Health Surveillance (CNHS) to assess the prevalence of anaemia and the risk factors associated with its prevalence in different regions. We included 9596 infants aged 0-23 months from the CNHS 2013 database. An infant was diagnosed with anaemia if he/she had a haemoglobin concentration of <110 g/L...

Leucyl-tRNA synthetase (LARS) is an enzyme that catalyses the ligation of leucine with leucine tRNA. LARS is also essential to sensitize the intracellular leucine concentration to the mammalian target of rapamycin complex 1 (mTORC1) activation. Biallelic mutation in the LARS gene causes infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute liver failure, anaemia, and neurological disorders, including microcephaly and seizures. However, the molecular mechanism underlying ILFS1 under LARS deficiency has been elusive...

SCOPE: Iron deficiency (ID) compromises the health of infants worldwide. Although readily treated with iron, concerns remain about the persistence of some effects. Metabolic and gut microbial consequences of infantile ID were investigated in juvenile monkeys after natural recovery (pID) from iron deficiency or post-treatment with iron dextran and B vitamins (pID+Fe). METHODS AND RESULTS: Metabolomic profiling of urine and plasma was conducted with 1 H nuclear magnetic resonance (NMR) spectroscopy...

We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset, allowed us to stop conventional anti-epileptic drugs and led to dramatic improvement in the clinical symptoms, with prompt cessation of seizures, resolution of anaemia, developmental progress, and prevention of development of severe and non-reversible manifestations...

Infantile tremor syndrome (ITS) owing to vitamin B12 deficiency usually presents with tremors, anaemia, pigmentary skin changes, neuro-regression and hypotonia. A 10-month-old boy with ITS and respiratory failure owing to bilateral diaphragmatic palsy who responded to high parenteral doses of vitamin B12 is presented. As far as we are aware, this is the first report of diaphragmatic palsy associated with ITS and vitamin B12 deficiency.

BACKGROUND: Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. Some cases have been rarely associated with juvenile Parkinsonism however the causal relationship between PGK1 deficiency and nigrostriatal dysfunction causing Parkinsonism has not been determined. OBJECTIVE AND METHODS: To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c...

Malignant infantile osteopetrosis (MIOP), an autosomal-recessive disorder, is extremely rare, presenting early in life with extreme sclerosis of the skeleton and reduced activity of osteoclasts. It was first described by Albers Schonberg in 1904. Disease manifestations include compensatory extramedullary haematopoiesis at sites such as the liver and spleen, hepatosplenomegaly, anaemia and thrombocytopaenia. Neurological manifestations can also occur due to narrowing of osseous foramina resulting in visual impairment, hearing loss, facial palsy and hydrocephalus...

A premature twin infant girl was transferred to a level IV neonatal intensive care unit for recurrent bloody stools, anaemia and discomfort with feeds; without radiographic evidence of necrotising enterocolitis. Additional imaging after transfer revealed a large retroperitoneal mass in the region of the pancreas compressing the inferior vena cava and abdominal aorta, raising suspicion for neuroblastoma. Abdominal exploration and biopsy unexpectedly revealed that the lesion was an infantile capillary haemangioma involving the small bowel, omentum, mesentery and pancreas...

Infantile pyknocytosis (IP) is a rare, self-limited neonatal haemolytic anaemia that may require multiple blood transfusions. Only a little more than 50 cases have been reported in the medical literature, and the great majority of them concerns term infants. The etiology of IP is not well understood; most likely it results from a transient extra-corpuscular factor, whose nature is unknown, transmitted from mother to child or, alternatively, from a deficiency of an anti-oxidative agent. We report the case of two preterm twins, one of which suffered from IP and developed severe anaemia at age 2 wk, while the other was unaffected...

INTRODUCTION: Infantile tremor syndrome (ITS) is characterized by anaemia, skin depigmentation, tremors and developmental delay. The lack of sufficient literature on ITS and its conflicting association with vitamin B12 deficiency made us present this article. OBJECTIVE: The objective of this study is to describe demographic, clinical and laboratory profile and outcome of ITS. METHODS: This is a retrospective chart review of all children presenting with typical features of ITS attending a tertiary paediatric centre in southern India between January 2014 and January 2017...