The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome
A 3.5-year-old girl was admitted to the Dokuz Eylul University Hospital with complaints of recurrent fever and vomiting. The patient had a history of hyperthermia episodes and vomiting, which started 4 months before admission. She had an axillary daily spiking fever up to 40°C. Fever and vomiting attacks lasted for 3-8 days. Vomiting did not accompany fever in all of the episodes. Besides these fever attacks, her mother mentioned that her child was also “becoming cold” during the day and this condition lasted approximately 1 h with accompanying diaphoresis. She had been investigated at other hospitals and had been treated with antibiotics for a presumed infection many times. She had agenesis of the corpus callosum, which was determined during the intrauterine period. She had psychomotor retardation. The parents were not consanguineous. There was no history of exposure to tuberculosis, cats, tick, insect bites, rash, arthralgia, arthritis, diarrhea, constipation, abdominal pain, or weight loss.\nOn physical examination, her weight, height, and head circumference were 10 kg (<3p), 88 cm (<3p), 46 cm (50-75p), respectively. Blood pressure was 90/55 mmHg. Body temperature was 40°C. Neurologic examination revealed strabismus, brisk deep tendon reflexes, and axial hypotonicity. Examination of the ears, nose, and throat was normal. She had normal lymphoid tissue with no adenopathy. Lungs were normal and cardiac examination revealed no murmur. There was no hepatosplenomegaly. The remainder of the physical examination was normal. The cause of fever with vomiting was unable determined in examination.\nInitial laboratory results were as follows: White blood cell count 9600/mm3 (4000-10300); hemoglobin 9.6 g/dL (12-14.5); platelet count 496000/mm3 (156000-373000); C-reactive protein 2.3 mg/L (0.1-8.2). Peripheral blood smear was normal. Renal and liver function tests, serum creatine kinase, electrolyte levels, and urine analysis were normal. The child was started with ceftriaxone. Cultures of blood and urine were negative. Serological work-up for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, ebstein barr virus, brucella, salmonella, mycoplasma pneumoniae, chlamydia, and hepatitis were negative. Evaluation for tuberculosis was also negative. After the elimination of infections, antiobiotherapy was stopped. Serum immunoglobulin A, M, G and complement (C3, C4) levels were normal. Anti-nuclear antibodies, anti-double stranded DNA antibodies, anti-neutrophil cytoplasmic antibodies, extractable nuclear antigens were negative. Mediterranean fever mutation analysis for familial mediterranean fever was negative. Level of serum Ig D for hyperimmunoglobulin-D syndrome was normal (18 IU/mL, N: 2-99.3). Abdominopelvic ultrasonography revealed normal findings. Brain magnetic resonance images (MRI) confirmed complete agenesis of corpus callosum []. Chest radiography and electroencephalography were normal.\nShe had normal serum levels of thyrotropin releasing hormon (2.82 μIU/mL) and free thyrotropin (1.22 ng/dL), cortisol (20.5 μg/dL), adrenocorticotropic hormon (15.9 pg/mL). Thus, infections, collagen vascular diseases, malignancy, hematologic diseases, some of periodic fever sydromes, hormonal disorder were excluded as the cause of her periodic hyperthermia with vomiting. Besides these fever attacks, during hospitalization, axillary body temperature of our case was observed to decrease to 34.3°C [] with accompanying diaphoresis, lasting for approximately an hour.\nPatient was evaluated in terms of possible metabolic causes of recurrent vomiting. A metabolic survey including analysis of serum tandem mass spectrometry and blood, urine amino acid assay found nothing specific. Serum lactic acid and ammonia level were normal. Venous blood gas analysis was normal during vomiting attacks. Thereby, metabolic diseases were excluded. In terms of recurrent vomiting, all investigations including analysis of serum and urine, abdominopelvic ultrasonography, MRI were normal. No specific cause of the recurrent vomiting was identified. Bowel obstruction was not considered because physical examination was normal and there was no symptom except for attack.\nIn our case, thermal dysregulation and vomiting was considered to may be associated with agenesis of corpus callosum. On the 15th day of the follow-up, she was discharged after resolving patient's fever and vomiting attacks.