Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

Bone marrow failure syndromes are characterized by the bone marrow’s inability to produce cells of different lineage. They can be classified as those affecting one or two cell lineages or those affecting all three of them. Fanconi syndrome, along with dyskeratosis congenita, is one of the inherited bone marrow failure syndromes that causes pancytopenia. Other inherited disorders affecting hematopoietic lineage include Diamond-Blackfan anaemia, Schwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia (CAMT) and Thrombocytopenia absent radii (TAR) syndrome. Acquired causes of bone marrow failure that lead to pancytopenia include aplastic anaemia, drugs, nutritional deficiencies, and viral infections. Kostmann syndrome is an autosomal recessive form of severe neutropenia, most likely due to excessive neutrophil apoptosis.

Aplastic anaemia causes a deficiency of all blood cell types: red blood cells, white blood cells, and platelets. It is more frequent in people in their teens and twenties, but is also common among the elderly. It can be caused by heredity, immune disease, or exposure to chemicals, drugs, or radiation. However, in about one-half of cases, the cause is unknown.The definitive diagnosis is by bone marrow biopsy| normal bone marrow has 30–70% blood stem cells, but in aplastic anaemia, these cells are mostly gone and replaced by fat.First-line treatment for aplastic anaemia consists of immunosuppressive drugs, typically either anti-lymphocyte globulin or anti-thymocyte globulin, combined with corticosteroids, chemotherapy and ciclosporin. Hematopoietic stem cell transplantation is also used, especially for patients under 30 years of age with a related matched marrow donor.

The clinical picture suggests that the baby has Beckwith-Wiedemann Syndrome, which predisposes the individual to cancer. The most common childhood tumour that a person with Beckwith-Wiedemann Syndrome may develop is Wilms’ tumour. Typical features include: macrosomia, asymmetric limb growth, macroglossia, neonatal hypoglycaemia, umbilical hernias or other abdominal wall deformities.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.The other listed options are:1. PKD1: polycystic kidney disease2. CFTR: cystic fibrosis3. HFE1: haemochromatosis4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

The clinical features and the presentation of this child and the MRI findings are highly suggestive of acute lymphoblastic leukaemia.Anaemia and neutropenia, with a borderline platelet count as well as the tumour infiltration on both femurs on the MRI scan, are suggestive of a widespread Marrow disorder. Based on the age of the patient, acute lymphoblastic leukaemia is more appropriate as it is more common than acute myeloid leukaemia in children and can present with bony pain in this age group.Other options:- Acute myeloid leukaemia: Although this is the most common leukaemia that is seen in adults, it rarely presents in children. – Ewing’s sarcoma: This would usually present in a more unilateral manner, and would only be associated with cytopenia if there was direct bone marrow involvement.- HIV infection: It would be very rare in this group. HIV infection can cause a wide array of signs and symptoms, but we are told that the MRI scan is highly suggestive of tumour infiltration, which would be uncommon in this condition. – Juvenile arthritis: It is much less common. There is also nothing to find on examination, such as swollen or painful joints, which would usually be seen in this condition.

The child is suffering from acute sickle cell crisis, a complication of sickle cell disease. It is characterised by a new segmental pulmonary infiltrate consistent with consolidation together with one or more new respiratory symptoms.The mainstay of treatment is oxygen support, (ventilation if required), hydration, antibiotics and analgesia.

Acute lymphoblastic leukaemia (ALL) is an aggressive type of blood and bone marrow cancer which can appear in childhood. Signs of childhood ALL include: Fever, Easy bruising, Petechiae, Bone or joint pain, Painless lumps in multiple areas of the body, Weakness, fatigue or paleness, and Loss of appetite. Blood tests may show elevated white blood cells, decreased values of red blood cells and low platelet count.

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

This history is suggestive of Henoch-Schönlein Purpura following a respiratory infection. A typical rash involving thighs and buttocks is often seen in this age group. Coagulation profile is the suitable answer from the given answers.

Lead can be found in material used for mining, leaded paints and gasoline, glassware, toys, and even cosmetics. Lead poisoning is rare nowadays as the use of lead has been banned from many products. Lead is toxic and in certain concentrations can cause irreversible damage. Children are especially vulnerable as they absorb 4 times as much ingested lead as adults. The typical features of lead poisoning include developmental delay and behavioural disorders, microcytic anaemia, constipation and vomiting. Pulmonary fibrosis, Osteomalacia and cardiomyopathy are not known features of lead poisoning.

Non-Hodgkin Lymphoma: The history is of enlarged reticuloendothelial system with abnormalities in all 3 cell lines of the bone marrow (pallor, fever and petechiae). The most likely diagnosis is therefore acute (lymphoblastic) leukaemia. Lymphadenopathy may be prominent: mediastinal nodes are characteristic of T-cell leukaemia. In lymphoma the marrow involvement tends to be much less.

Hematopoietic stem cells (HSCs) are a rare population of cells residing in the bone marrow (BM) and continuously replenish all mature blood cells throughout their life span.

Carbon monoxide is a colourless gas, which is toxic to animals. It has a high affinity for haemoglobin (around 250 times greater than oxygen). It combines with haemoglobin forming carboxyhaemoglobin, which decreases the oxygen-carrying capacity of the blood, leading to a left-shift in the oxygen-dissociation curve. CO is produced endogenously in limited amounts (0.4ml per hour), but the toxic levels are higher.

The presentation of the child is highly suggestive of Henoch-Schonlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6 years old and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection.A purpuric rash is seen on the back of the legs and buttocks and can less frequently affect the arms. Arthralgia is common (usually knees/ankles) in these patients.Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Howell-Jolly bodies are often seen in post-splenectomy cases, together with Pappenheimer bodies, target cells and irregular contracted red blood cells. The loss of splenic tissue results in the inability to readily remove immature or abnormal red blood cells from the circulation.

The most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.