Vitamin D in tuberous sclerosis complex-associated tumors.

Mammalian target of rapamycin inhibitors (mTORi) have been used to treat pediatric tuberous sclerosis complex (TSC)-associated tumors, particularly in cases with contraindications to surgery or difficulties in complete tumor resection. However, some patients experience side effects and tumor regression after discontinuation of the treatment. Therefore, there is an urgent need to develop drugs that can be used in combination with mTORi to increase their efficacy and minimize their side effects.

[Study of death with the severely disabled].

Objective: The characteristics of death in patients with severe mental and physical disabilities include, a short period from the onset of symptoms to death and sudden death in the young. However in recent years, it has not been rare for such patients to live to more than 50 years old. We examined the survival rate and current state of death within 24 hours among this patient population at our center.

Early disruption of neurovascular units and microcirculatory dysfunction in the spinal cord in spinal muscular atrophy type I.

Spinal muscular atrophy type I (SMA-I) is characterized by progressive muscle weakness with onset in early infancy, usually resulting in mortality before two years of age. However, the processes underlying the pathophysiological progression of the disease remain unclear. Prior to the onset of muscle weakness, a regression of local capillaries is observed along with motor neuron loss.

[A 5-year-old boy with nonconvulsive status epilepticus induced by theophylline treatment].

A normally developed 5-year-old boy with no history of convulsive disorder presented with a generalized tonic-clonic convulsion on the second day of oral theophylline therapy. Although the convulsive seizure was abolished by an intravenous bolus of diazepam, he did not regain consciousness. Emergency electroencephalography disclosed continuous irregular seizure activity, occurring predominantly over the right hemisphere, indicating a diagnosis of nonconvulsive status epilepticus (NCSE).

Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability: coexistence of auditory neuropathy and cochlear hearing loss.

We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neuropathy contrasted with cochlear hearing loss in the right ear.

[Continuous midazolam infusion for refractory nonconvulsive status epilepticus in children].

We examined efficacy of continuous midazolam (MDL) infusion in seven episodes of refractory nonconvulsive status epilepticus (NCSE) in five children. Diagnosis included Lennox-Gastaut syndrome (two cases), and symptomatic generalized epilepsy, ring chromosome 20 syndrome, and epilepsy with continuous spike-waves during slow-wave sleep (one case each). One patient with Lennox-Gastaut syndrome and another with ring chromosome 20 syndrome had two episodes of NCSE.