Infantile Parotid Hemangioma With Diagnostic Dilemma: A Case Report.

INTRODUCTION: Salivary gland tumors are uncommon in children; hemangiomas are one of them. We report a case of infantile hemangioma of the parotid gland which posed a diagnostic dilemma. PATIENTS AND METHODS: Four-month-old infant presented with swelling at the parotid gland region, which was progressively increasing. There was a diagnostic dilemma with initial misdiagnosis as acute parotitis. Imaging studies with ultrasonography and CT with contrast were requested. RESULTS: Imaging studies revealed hyperintense lobulated mass suggestive of parotid hemangioma. Vascular consultation recommended conservative management with follow-up after 3 months. On follow-up, there was an increase in mass size, and propranolol was started. Swelling showed a good response on the next follow-up visit and is still on medical management. CONCLUSION: Parotid hemangiomas frequently pose a diagnostic dilemma, but the typical noninflammatory nature of the swelling and radiological evaluation confirms the diagnosis.

Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

BACKGROUNDD: Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability. METHODS: We report a seven-years-old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth. There were associated with global developmental delay and seizure disorder. SLS was suspected and hence sequence analysis of the ALDH3A2 gene by next-generation sequencing was performed for the patient. RESULTS: A novel nucleotide exchange in homozygous state at position c.1320 in exon 9 of the ALDH3A2 gene (c.1320T>A), leading to a stop of the protein sequence (p.Tyr440) was detected in the patient. Genetic testing of the patient's extended family revealed another four affected family members with the same mutation. CONCLUSIONS: SLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di/tetraplegia. Molecular genetic testing of the ALDH3A2 gene should be performed to confirm the diagnosis. Extended family screening is highly recommended.