Хуудас 1 -аас 250 үр дүн
A 41-year-old woman, suffering from continuous abdominal pain, only presented a non-specific inflammation of the whole colon and an unclaryfied hyponatriaemia; in spite of the only doubtful explanation by an enormous elongation of the colon, it was partially resected. Thereafter, the patient's
The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).Here we People with epilepsy are believed to be at a higher risk of incurring accidental injury than people who do not have seizures. The incidence of injury, either due to seizure or accident as a consequent of seizure is also high and varies from 0.03% to 3%. The most common injuries are head contusions,
Weakness, seizures, and encephalopathy have a broad differential diagnosis in patients with systemic lupus erythematosus (SLE). We present a case of a 26-year-old female with a recent diagnosis of SLE who experienced a clinical deterioration with quadriparesis, seizures, and encephalopathy. Her
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a recently described very rare autosomal recessive neurodevelopmental disorder. This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4
A 64-year-old man sustained acute quadriplegia due to a traffic accident, while in the midst of a petit mal seizure. After recovery from the initial medical complications he developed a duplicate limb phenomenon. The patient felt that another pair of upper and lower limbs had grown from his body,
Central pontine myelinolysis (CPM) has been reported in women with severe hyperemesis gravidarum-induced hyponatremia followed by rapid correction. Gestational diabetes with adipsia complicated by acute hypernatremia resulting in CPM has never been reported. Here is a case of a disabled female who
This report gives a description of 4 male patients, two of whom are sibs, two of whom are uncle and cousin. They appear to have psychomotor retardation, spastic quadriparesis and on CT (partial) agencies of the corpus callosum, and irregular lining of the lateral ventricles, without craniofacial
Epileptic seizures associated with intrathecal baclofen (ITB) application have been observed in patients with traumatic brain injury. A higher incidence of seizures has also been reported in patients with multiple sclerosis (MS) receiving ITB. To our knowledge, no case of a first epileptic seizure
Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via
Neurofibromatosis 1 (NF1) is the most common neurocutaneous syndrome. It is estimated to occur in approximately 1 out of every 3300 infants. The manifestations of this condition are diverse and can arise from almost any system in the body. The neurofibroma is the hallmark lesion of NF1 that develops
Major abdominal surgeries, including liver transplantation, are considered high-risk procedures for patients with respiratory muscle dysfunction, such as patients with quadriparesis, due to possible fatal postoperative pulmonary complications. We report on a 57-year-old male patient with
Asparagine synthetase deficiency is an autosomal recessive neurometabolic disorder characterized clinically by severe congenital microcephaly, global developmental delay, intractable epilepsy, and motor impairment in the form of spastic quadriparesis. Diagnosis is confirmed by findings of low