Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.

Red cell pyruvate kinase (PK) deficiency is a genetic disorder affecting the enzyme PK in red blood cells. A deficiency in PK leads to hemolytic anemia. Hypertriglyceridemia means elevated levels of triglycerides in the blood. The hypertriglyceridemia disorder can be primary or secondary to an underlying disease. Hypertriglyceridemia with ß-thalassemia major is a known association and is called hypertriglyceridemia-thalassemia syndrome. A four-month-old male child was found to have milky serum. On investigation, there was severe anemia, with triglycerides at 1197 mg/dL and high lactate dehydrogenase (LDH). The child had severe pallor, mild icterus, a dysmorphic face, and splenohepatomegaly. Ophthalmic examination showed lipemia retinitis. The child was treated with medium-chain fatty acid formula feed. Regular blood transfusions, folic acid supplements, and avoidance of salicylate group drugs were advised. The child improved and is doing well. Thus, early diagnosis and treatment can change the prognosis and help maintain a near-normal life for affected infants.

An Atypical Presentation of Cerebellar Abscess: A Case Report.

An infratentorial abscess is a medical emergency. Common sources of abscesses are otogenic foci, sinusitis, or dental abscess, rarely congenital defects like dermoid cysts with sinus along with cerebrospinal axis can lead to infratentorial abscess. This case report describes a four-year-old girl with pus discharging from the occipital area. Radiological imaging revealed a cerebellar abscess with the sinus tract open exteriorly through an occipital cortical defect with obstructive hydrocephalus. The patient underwent neurosurgical intervention followed by antibiotic therapy. Histopathology of the tissue sample was suggestive of a dermoid cyst. Congenital defects should not be ignored. All newborns should have a thorough physical examination to identify birth defects. As these defects can cause life-threatening complications, early recognition with early surgical intervention is the treatment of choice.

A Case of Ectopic Ureter With Right Atrophied Kidney in a Pediatric Patient.

An ectopic ureter (EU) is a ureter that does not connect appropriately to the bladder and drains somewhere other than the urinary bladder. Ectopic ureter is not so common in kidney anomalies. In men, the EU usually opens near the prostate into the urethra; however, in females, it mainly opens into organs of reproduction or into the urethra. Differential diagnosis of urinary incontinence from other causes, such as EU has a potential cure through surgery. Most women with ectopic ureters have duplex kidneys. An EU emptying a single-system ectopic dysplastic but functioning kidney is uncommon, especially in females. Computed tomography and magnetic resonance imaging provide a clearer image of the ectopic kidney. The surgical techniques used to correct this type of EU are determined based on the functioning of the kidney and anomalies related to the EU site. This is a case of a 9-year-old female who presented with complaints of dribbling urine, which was discovered to be caused by an ectopic ureter with an atrophic kidney.

Atypical Presentation of Wilson Disease: Unravelling a Clinical and Radiological Complexity in a Rare Case.

Wilson disease (WD) is an autosomal recessive disorder marked by aberrations in copper metabolism, leading to its accumulation in vital organs such as the liver, brain, cornea, kidneys, and heart. While WD typically presents with hepatic symptoms in early childhood, neuropsychiatric manifestations are more prevalent during adolescence. This case report highlights an extraordinary instance of WD in an eight-year-old girl, characterized by intricate clinical and radiological features. The patient exhibited atypical symptoms, emphasizing the importance of recognizing diverse presentations of WD. Delayed diagnosis and treatment initiation can prove fatal in WD cases, underscoring the significance of awareness regarding these unusual clinical and radiological features to facilitate prompt intervention and prevent adverse outcomes.

An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the rare congenital defects that usually involves the impaired development of structures derived from first and second branchial arches such as ears, eyes, mandible, palate and various other structures of the face along with spinal abnormalities. The severity of Goldenhar syndrome anomalies can range from minor to severe, and patients with modest facial asymmetry to those with a highly evident facial abnormality. The most typical characteristics of this condition are dental ailments and impaired development of the mandible, maxilla, zygomatic, orbital, lips, tongue, and palate. It may also include hemifacial microsomia along with the cleft lip or cleft palate. The aetiology may include genetic and environmental factors but in most of the cases, the aetiology remains unknown. Gestational diabetes mellitus is also one of the leading risk factors associated with Goldenhar syndrome. The treatment and management depend upon the age of the patient and the clinical presentation. This case report describes an eight-year-old male child with generalised tonic-clonic seizures in all the limbs along with peri auricular skin tags, mandibular hypoplasia and esophageal stricture. There were no ocular findings or vertebral deformities.

The Early Presentation of a Classic Case of Tuberous Sclerosis: A Case Report.

Tuberous sclerosis (TS) is a potentially severe medical disorder that poses a life-threatening risk and can lead to drastic lifestyle changes. In infants and young children, the typical diagnostic criteria for this condition encompass cutaneous manifestations and seizures, and the development of cellular growths termed hamartomas, astrocytomas, myolipomas, and even carcinomas observed within the cardiac, cerebral, renal, and retinal tissues. The usual age of presentation varies widely, which affects the prognosis. We report a case of a four-month-old male patient who presented with early signs of TS. The patient showed signs of infantile spasms and seizures. On further examination, he had neurological, cutaneous, cardiac, and retinal manifestations, which pointed toward the diagnosis of TS. This case report emphasizes the importance of screening for TS at an early age due to the possibility of patients presenting earlier than the usual age of presentation. To the best of our knowledge, there is scarce data on this kind of early-onset signs of TS; therefore, we feel that it is imperative to start screening infants earlier to improve the prognosis and decrease the complications of this disease. The screening tests and the incidence of screening will vary based on the cost and availability of proper diagnostic and screening tests and the accessibility of efficient treatments.