Sickle cell disease is a very common inherited disorder of the hemoglobin. It is inherited in an autosomal recessive manner. Most affected are the people of African, Indian and Arabian origin. It occurs due to change in the single base pair gene wherein thymine replaces adenine in the 6th codon of the beta-globin gene. This result in the sickling shape of the red blood cells. Sickle cell disease includes a variety of phenotypes like the SS, AS, Sickle-thal, SC patterns, etc. Sickle cell- SS pattern also termed as sickle cell anemia is the most common of form of the disorder and is also responsible for the morbidity and mortality caused by the disorder. The sickling pattern of the red blood cells occludes the blood vessels and leads to a wide range of complication in the affected individuals. These complications can be seen in number of different systems of the body and also multiple systems at the same time. These complications are termed as crisis, which then include the vaso-occlusive crisis, acute chest syndrome, splenic sequestration crisis, etc. These crises can negatively affect the quality of life to a large effect, but are also largely controllable or rather delayed and effectively managed as far as possible with reduced effect in the normal well being. Hence the knowledge about these crisis and their treatment is an important aspect of medical practice, especially in the countries where this disorder is commonly seen. Here in this review article we aim to highlight the major crises seen in sickle cell disease and their treatment in brief.

Encephalocele is a form of neural tube defect affecting many children, more common in the occipital regions. The frontoethmoidal encephaloceles (FEE) are rare and the aetiology is unclear since it varies genetically and is linked to multiple reasons. The child with FEE mainly presents with swelling over the bridge of the nose or inner canthus of an eye since birth, with varying degrees of hypertelorism. Here we report a child who has facial asymmetry with FEE. Encephalocele is a defect in the calvarium that causes the cranial contents to protrude outside the natural limits of the skull. It can have meninges (meningocele), brain matter and meninges (meningoencephalocele), or communication with the ventricles. Suwanwela and Suwanwela defined encephaloceles based on the location and form of skull defect as occipital encephaloceles, cranial vault encephaloceles, frontoethmoidal encephaloceles, and basal encephaloceles. The internal skull defect in frontoethmoidal encephalocele (FEE) is in the midline, but the external skull defect may vary in the facial bony structure. 1–3 It is also classified into three subtypes: nasofrontal (NF), naso-ethmoidal (NE), and naso-orbital (NO). These swellings are classified as sessile or pedunculated, and their palpability ranges from robust and rigid to soft and cystic. We present a case of an infant with frontoethmoidal encephaloceles as well as a facial deformity.

Beckwith - Wiedemann Syndrome (BWS) usually present at birth is an overgrowth disorder, characterized by variable spectrum of clinical findings. The classical features include macrosomia, macroglossia, midline abdominal wall defects, hypoglycaemia in neonates and ear creases. We present a six-month-old female child with history of difficulty in sucking. Macrosomia with macroglossia was present on general examination. The infant had continuous murmur which was best heard at infraclavicular area. Mild hepatomegaly with splenomegaly was present on per abdominal examination. Echocardiography study revealed moderate size patent ductus arteriosus (PDA) with left to right shunt without pulmonary hypertension which was closed by PDA device. Beckwith - Wiedemann syndrome is an overgrowth disorder in paediatrics age group. It is estimated that BWS has an incidence of 1 in 13,700 population with equal chances in both male and female.1 An American pathologist, Dr. John Bruce and a German paediatrician named Dr. Hans-Rudolf Wiedemann, had suggested about this condition separately. Initially it had been termed EMG (exomphalos, macroglossia, and gigantism) syndrome which was thereafter referred to as Beckwith Wiedemann syndrome. Genetically BWS is said with an alteration of the organic phenomenon at the petit arm of chromosome 11 (11p15) causing over activity of growth factor IGF - 2 gene and/or no active copy of the inhibitor gene of cell proliferation - CDKN1C. Child presents with the mixture of congenital abdominal wall defects as exomphalos, macroglossia and gigantism. Some additionally present also with hemihypertrophy port-wine stain, midface hypoplasia, prominent occiput, genitourinary anomalies like enlarged kidneys, musculoskeletal abnormalities, cardiac defects and deafness.2,3 These children may grow at an accelerated pace during the latter half of the antenatal period continuing in the initial few years of life. Though, their adult heights are usually in the normal range. Here, we report a six-month-old female infant, who presented with evident features of BWS with congenital heart disease.

Sturge - Weber Syndrome (SWS) is an uncommon neuro-oculocutaneous disorder. It is, also known as encephalotrigeminal angiomatosis, which is characterized by angiomas involving the face, choroid, and leptomeninges. Vascular malformation in conjunctiva, choroid, episclera, retina leading to glaucoma is the common ocular manifestation. It is one of the phakomatoses and is often associated with ocular problem, seizures, intellectual disability, and angioma. Here we report a child who has orbital cellulitis of the left eye in a SWS patient. Rare disorder like SWS, is a congenital neurocutaneous disorder. It is characterised classically by facial capillary haemangioma that is the port wine stain (PWS), which involves the face, forehead and/or scalp along with a choroidal angioma and a venous angioma of the leptomeninges. The incidence of SWS is 1 in 20,000 - 50,000 live births. The systemic implications of SWS are vast and include ophthalmic manifestations, dermatologic, neurologic, and oral manifestations. 1-3 Here, we are presenting a rare case of Sturge - Weber Syndrome in an eight-year-old male child who presented with orbital cellulitis of the left eye.