Anri Hayashi

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease

The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light‐induced PLR was markedly impaired, whereas blue light‐induced PLR was relatively spared. In addition, patients with non‐neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD.

Group A streptococcal brain abscess: A case report and a review of the literature since 1988

Abstract Brain abscesses caused by group A Streptococcus (GAS) are rare infectious diseases. In this report we present a case of brain abscess due to GAS infection occurring after milk tooth extraction in a healthy child. A literature review of previously reported cases is presented.

Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

Meckels diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.

Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease

In Gaucher disease (GD), enzyme replacement therapy (ERT) results in the alleviation of hematological abnormalities and visceral infiltration as well as improvement in quality of life and life-span. However, several years may be required for skeletal manifestations, which are usually observed in type 1 and 3 GD, to respond to ERT. Infants with type 2 GD rarely present skeletal manifestations because most of these patients die within the first 2 years of life before they develop skeletal involvement. The use of ERT may prolong the lifespan of these patients and influence the natural history of the disease. The present study reports a new natural history of treated GD in which a 2-year and 7-month-old girl with type 2 GD who was receiving ERT developed valproate-induced Fanconi syndrome, pathological fractures, and pyogenic osteomyelitis. In conclusion, skeletal disease may occur in any type of GD, and Fanconi syndrome may lead to severe skeletal complications in patients with GD.

Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature

Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life‐threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC. We described a patient with trisomy 13 who was diagnosed with LVNC‐dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management.

Glycemic Index Treatment Using Japanese Foods in a Girl With Lennox-Gastaut Syndrome

We introduced a low glycemic index treatment using Japanese ethnic foods to a 13-year-old girl with Lennox-Gastaut syndrome caused by tuberous sclerosis complex. She had previously refused the modified Atkins diet within 2 weeks of diet treatment because of its restrictiveness. The low glycemic index treatment was implemented by limiting the daily carbohydrate intake to 50 g of foods with a glycemic index of less than 50 relative to that of glucose, which included udon, soba, and unpolished Japonica rice with natto. One month after the initiation of the diet therapy, the clusters of tonic seizures for 30 to 60 minutes during sleep were reduced from two or three times per week to once or twice per month, and the frequent myoclonic seizures in the awake state disappeared. She has been on the diet therapy for more than 1 year, and the efficacy of the diet has been sustained. Low glycemic index treatment should be considered for patients with medication-resistant epilepsy who cannot tolerate restrictive diet therapies. Japanese ethnic foods can be used for this diet therapy.