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Introduction: Fatigue is a common, nonspecific symptom with a broad range of etiologies including acute and chronic medical disorders, psychological conditions, medication toxicity, and substance use.

Case report: A 26-year-old woman resorts to the Health Unit with feelings of anguish, sadness, fatigue, crying spells and terminal insomnia with 2 months of evolution. In addition to concerns about her 8-year-old brother with cerebral palsy, she reported her parents were divorcing. She didn’t intend to start medication. She returns 3 weeks later with an analytical study that had no relevant findings. She agreed to start antidepressants. After 6 weeks only sleep had improve. The patient additionally reports that she was followed in adolescence by a thyroid nodule. The dosage of the antidepressant was titrated, and a thyroid ultrasound was requested. Two months later, there was an improvement in the mood complaints, but maintained fatigue. The ultrasound revealed a “solid nodular formation, hypoechoic, lobulated or two nodular formations”. A biopsy of the thyroid nodule was requested. Due to the suspicion of parathyroid adenoma, a measurement of serum calcium and PTH was requested, and both were elevated, favoring this last hypothesis. A general surgery appointment was requested, and the patient underwent a parathyroidectomy, leading to a resolution of the symptoms, namely asthenia.

Discussion: Fatigue is a non-specific symptom, which requires a careful etiological investigation. In this case, although it could have been a result of her mood disorder, there was an organic justification for her asthenia. The Family Physician must be watchful, trying to make a assertive differential diagnosis in cases with symptoms refractory to treatment.

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Background

Chronic Paroxysmal Hemicrania (CPH) is a rare and debilitating headache and it is characterized by episodes of unilateral pain that occurs in association with ipsilateral cranial autonomic symptoms.

Thrombosis of cerebral venous vessels is a rare cause of cerebral infarction. It is very often unrecognized at initial presentation. It has been implicated in mimicking many of the primary headache disorders.

Method

Case report.

Results

37 years-old caucasian woman with a past medical history of Sjogren's Syndrome, Systemic Lupus Erythematosus, hyperthyroidism, depressive disorder and asthma, experienced sudden transient loss of consciousness followed by left-sided headache without any other neurological deficit. Familial history was negative for neurological syndromes. A cardiac etiology for episode was excluded by a continuous cardiac monitoring device.

5 months later similar symptoms occurred, although this episode was complicated with a transient left sided hemiparesis. MR imaging revealed left cerebral transverse sinus hypoplasia and thrombosis of the central venous sinuses.

After 3 months she developed transient neurological symptoms with dizziness, left sided hemiparesis and visual disturbances. Thereafter she visited her Family Doctor describing chronic daily headache for many years, with exacerbations of severe uni/holocranial headache associated with photophobia and nausea, simultaneously with transient neurological symptoms.

These episodes suggested CPH. Therapeutic trial with indomethacin was started, which led to complete resolution of the condition.

Discussion/Conclusion

This case demonstrates that the holistic/patient-centered view and the knowledge of patient’s medical history allows Family Doctor to diagnose many conditions. The accurate diagnosis and treatment had a significant improvement in the patient's quality of life.

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Family doctors have the responsibility to evaluate children’s physical, cognitive, and social development. The evaluation of milestone checklists and the referral when noticing concerning results allows further evaluation and initiate early intervention program.

This case reports to a male child, currently aged 6 years old, living with his mother and brother. In 2016, during the 4-month consultation the child’s growth deviate downward from its previous percentile, and he could not hold his head steady. He was referred to Pediatrics and hospitalized for weight loss, motor delay and hypotonia. Metabolic analytical evaluation revealed some alterations, and he was followed in Metabolic Diseases consultation. At 26 months of age, he had 12 atonic epileptic seizures daily. He was medicated with anti-epileptic drugs and started a ketogenic diet, which reduced the number of seizures. At 34 months of age, a genome sequencing was carried out, which identified a pathogenic variant of the non-herited SYNGAP1 gene.

Despite the clinical variability associated with SYNGAP1 mutations, the most common characteristics are epilepsy, global development delay, autism, intellectual disability, behavioral problems and eating difficulties due to facial hypotonia.

The child is currently under numerous therapies and is followed in several medical specialties. He maintains some developmental delay, however, little improvements have been achieved due to family stimulus and support.

This case reinforces the importance of primary health care in the continuous surveillance of the child development, as well as its role in promoting an effective articulation between the various intervening parties in the healthcare.