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Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This syndrome is difficult to diagnose clinically because of its variable phenotype.  Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. This condition is characterized by a specific finding on an magnetic resonance imaging (MRI) called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The exact diagnosis is often not made for several years after birth.We present a case of Joubert syndrome in a thirteen year old male with developmental delay, ataxia, mild hypotonia, nystagmus and molar tooth sign on MRI. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation.

Tumors of salivary glands are uncommon in children (less than 5%). Hemangioma is the commonest tumor of salivary gland tumors (more than 50%). We report a rare case of infantile hemangioma (IH) of parotid gland.

Henoch-Schonlein purpura (HSP) is the most common vasculitis of childhood and is characterized by leukocytoclastic vasculitis and immunoglobulin A deposition in the small vessels in the skin, joints, gastrointestinal tract and kidney. We report a 6 year old female child presented with rashes over both legs and buttocks along with joint pain and abdominal pain and multiple episodes of vomiting. Patient was diagnosed with HSP and treated with oral prednisolone followed by methylprednisolone and other supportive care.

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Tuberous Sclerosis (TS) is the most common single gene disorder in children. It has an incidence of 1 in 5800 live births. It is an autosomal dominant genetic multisystemic disease characterized by hamartic development of many organs most notably the brain, heart, kidney, lungs and skin. It results from mutation of TSC1 and TSC2 gene coding for hamartin and tuberin respectively. Most of the newborns are asymptomatic. In infancy, seizures are the most common symptoms with a high incidence of infantile spasm while children between 2- 10 years neurological symptoms are most frequent with epilepsy, mental retardation and autism. Authors report a 4-year-old male child born of grade 3 consanguineous marriage presented with seizures in form of Infantile Spasm and Skin Lesions.

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Cornelia de Lange Syndrome (CdLS) was first reported by Vrolik in 1849 and Brachmann in 1916, followed by Cornelia de Lange in 1933, after whom the syndrome is named. This disorder has a varied presentation but is mainly characterized by distinctive facial features, growth retardation, microcephaly, hirsutism, psychomotor delay, intellectual disability, and malformations of the upper limbs. Initial diagnosis is usually based on clinical features following specific diagnostic scoring systems. The precise prevalence of the disease is unknown but is estimated to be 1-10:100,000. Depending on the mutated gene, Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant manner, when it is caused by variations in the NIPBL, SMC2, or RAD21 genes, or it can have an X-linked inheritance when it is caused by variations in the SMC1A or HDAC8 genes.However, most cases (more than 99%) result from new (de novo) mutations, which means that are not inherited from the parents and occur in people with no family history of the conditionabout 30% of the people affected by the syndrome do not have any known cause. Many studies focused on the importance of neurologic findings and reported an incidence of epilepsy in CdLS ranging from 14% to 25%, especially in the classic and more severe form of the syndrome, but there is no data about its electroclinical features and long-term outcome. Life expectancy is relatively normal for people with CdLS and most affected children live well into adulthood. However, certain features of this condition, particularly severe malformations of the heart or throat, may decrease life expectancy in some affected people. The diagnosis is suspected clinically and later confirmed by clinical exome sequencing.