Lafora disease: a case report.

BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as brain, skin, muscle, and liver. CASE PRESENTATION: We report a rare case of Lafora disease in a 16-year-old Albanian girl who presented at a tertiary health care center with generalized tonic-clonic seizures, eyelid twitches, hallucinations, headache, and cognitive dysfunction. She was initially treated for generalized epilepsy and received an antiepileptic drug. However, owing to resistance of seizures to this antiepileptic drug, a second drug was introduced. However, seizures continued despite compliance with therapy, and general neurological status began to deteriorate. The child began to have hallucinations and decline of cognitive function. She developed dysarthria and unsteady gait. When admitted to the hospital, blood tests and imaging examinations were planned. The blood tests were unremarkable. There was no relevant family history and no consanguinity. Electroencephalography showed multifocal discharges in both hemispheres, and brain magnetic resonance imaging revealed no abnormality. Axillary skin biopsy revealed inclusion bodies in apocrine glands. Consequently, the child was referred to an advanced center for genetic testing, which also confirmed diagnosis of Lafora disease with a positive mutation on NHLRC1 gene. CONCLUSIONS:  Even though rare as a condition, Lafora disease should be considered on differential diagnosis in progressive and drug-refractory epilepsy in adolescents, especially when followed by cognitive decline.

A new variant of MYCN gene as a cause of Feingold syndrome.

Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7-year-old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene.

Peripheral primitive neuroectodermal tumor: a case report.

BACKGROUND: Primitive neuroectodermal tumors are extremely rare and highly aggressive malignant small round cell tumors that arise from the primitive nerve cells of the nervous system or outside it. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with Ewing's sarcoma. Peripheral primitive neuroectodermal tumors of the chest wall are rare malignant tumors seen in children and young adults. CASE PRESENTATION: We report a rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with a mediastinal tumor and an unusual clinical presentation. She was initially treated for acute polyradiculoneuritis (Guillain-Barré syndrome) owing to pain, weakness in the lower limbs, and walking difficulty, as well as severe irritability. During the second week of treatment, the child began to experience dry cough, chest discomfort, and worsening dyspnea. Chest radiography, chest computed tomography, and contrast-enhanced computed tomography demonstrated a large mass in the right hemithorax that was derived from the posterior mediastinum with expansive growth in all directions and that shifted the mediastinal structures in the anterolateral left direction. Consequently, histopathology and immunohistochemical examination of the markers S-100, CD99, and Ki-67 showed that the tumor cells stained positively for S-100 and CD99. The proliferative index measured by Ki-67 was approximately 20%, which suggested primitive neuroectodermal tumor. CONCLUSIONS: Even though other diseases, including leukemia, lymphoma, and neuroblastoma, may be accompanied by musculoskeletal manifestations in children, other solid tumors, such as peripheral primitive neuroectodermal tumors, should be considered in the differential diagnosis in any child presenting with musculoskeletal symptoms.