1. Clinical Studies of Hereditary
Sensory and Autonomic Neuropathy Type 4
5th Asian and Oceanian Congress of Child Neurology,
Istanbul Turkey, 1996, October
and Syouta Miyake.
1) Department of Pediatric Neurology, National
2) Department of Pediatrics, Seibo Hospital.
3) Yokohama Ryouiku-en, Tokyo, Japan.
Hereditary sensory and autonomic neuropathy (HSAN)is usually
divided into six types(Liberfarb,1993).Type 4 of HSAN shows congenital
insensitivity to pain with anhidrosis and autosomal recessive
We studied 29 cases with HSAN type 4 in Japan and discussed the clinical
signs. The male to female ratio was 18/11.Insensitivity to pain or
heat, severe self injury, such as biting their own tongue or unexplained
fever were noticed within the first six months of age in 15 of the
29 cases. Sensation of touch, itching and tickle were all intact. The
average gestational week of the 29 cases was 38.5 weeks, the average
birth weight was 2643g.Developmental milestones were delayed as follows:
head control was at 4.1,months old (3-6), sitting alone was at 9.0
months old(7-15)and walking alone was at 17.8 months old(14-28)on average.
Facial appearance was characteristic in about one-third of the cases.
Head circumference was in the normal range, but in many cases it was
under the average. About half of the cases showed muscle hypotonia
with hyporeflexia. The average IQ was 73.5 in 3-to 4-year-olds, 46.
6 in 6-to 12-year-olds and 39.4 in children over 13 years old. Hyperkinetic
mild mental delay was also characteristic. Because of mental delay
and hyperkinesia, they could not learn the risk of pain and heat. There
was a history of febrile convulsion in 17 of the 29 cases (58.6%).
Epilepsy was seen in 5 of the 29. A high incidence of febrile convulsion
or epilepsy and mental retardation suggests that HSAN type 4 not only
involves the peripheral nerves, such as sensory and autonomic nerves,
but also involves the central nervous system.
Serious complications were Charcot joints, repeated severe burns, osteomyclitis,
bone fracture, traumas of tongue and mucous and hyperthermia or heat
stroke due to anhidorosis. In some cases these complications were the
cause of death. It is very important to prevent these complications.
Further study is needed.
2. Seizures in Congenital Insensitivity
to Pain with Anhidrosis (CIPA)
8th International Child Neurology Congress, Ljubljana, Slovenia,1998,
1) Seibo International Catholic Hospital
,Dept. of Pediatrics ,Tokyo.
2) National Children’s Hospital ,Dept. of Pediatric Neurology
3) Chiba-Nishi Hospital ,Dept. of Pediatrics, Chiba.
4) Japan Association of Patients with CIPA (JA-CIPA) ; JAPAN.
CIPA is regarded as the same disease entity as hereditary sensory
and autonomic neuropathy (HSAN) type 4 (Dyck) . The main clinical
features include unexplained fever and repeated traumatic and
thermal injuries due to lack of the first order afferent system.
Not only peripheral but also CNS involvement is thought to occur
in CIPA, e.g. mental retardation and hyperactivity.
We examined seizures as a manifestation of CNS involvement in CIPA.
The genes responsible for CIPA were recently identified by Indo et.al.
(1996).:The parents of 50 JA- CIPA patients consented to participate
in this study.
Questionnaires regarding seizures were answered by all of the parents
and some medical records were obtained from primary physicians.
1) Fever- associated seizures (FS) were seen in 24 patients (48%).
The onset ages were; 0-1 month, 1-6 m, 6-12 m, 1-3 yrs, 3-5 y, 5-6
y and > 6 y in 3,8,13,4,0,4 and 2 patients, respectively. Those
under 6 m numbered 11 (46%).The total numbers of FS were 1,2,3-4 and >=5
in 16.5.0 and 3 cases, respectively .Temperatures at the time of FS
were 38 ,39,40, 41 and 42c in one,4,5,3 and 4 cases, respectively.
The seizure duration was short except in 4 cases with febrile status
convulsivus (FSC). These four FSC cases were considered to have epileptic
encephalopathy and the outcomes were poor (1 death, 3 severe brain
2) Chronic afebrile seizures (epilepsy) were seen in 7 cases (14%):
Symptomatic Generalized Epilepsy in 3, Symptomatic Partial Epilepsy
in one and Undetermined or unclear in 3. The age of onset was under
2 y in 6 cases. The seizure frequency was daily or monthly in 5.
1) FS were common in CIPA and the characteristics
differed from those of ordinary febrile seizures
despite the good prognosis, except in FSC cases.
2) If FS persist, intensive therapy for the prevention
of subsequent epileptic encephalopathy is essential.
3) The incidence of epilepsy was also higher than
in the normal group.
3. Post-herpetic neuralgia in
a patient with congenital insensitivity to pain and anhidrosis.
Toshiya Tomioka, Yutaka Awaya, Kenji Nihei, Kazuo Hanaoka
J.Anesthesia. 16:84-86. 2001.
We reported a patient who had been diagnosed with congenital insensitivity
to pain with anhidrosis complained of itching as a sequela of herpes
zoster infection. We think that this itching was a symptom of post-herpetic
4. Anesthesia for Patients with
Congenital Insensitivity to Pain and Anhidrosis:A questionnaire
Study in Japan.
Toshiya Tomioka, Yutaka Awaya, Kenji Nihei, Hiroshi Sekiyama,
Shigehito Sawamura, Kazuo Hanaoka
Anesthesia&Analgesia. 94:271-274. 2002.
We previously published an article which handed anesthetic management
of congenital insensitivity to pain and anhidrosis (CIPA). In this
article, we showed, although lacking pain sensation, some patients
do have tactile hyperesthesia. Thus, anesthetics are a necessity during
operations. And we determined that since patients with CIPA have problems
with thermoregulation, temperature management is a concern during the
perioperative period and sufficient sedation is necessary to avoid
accidental fracture. Additionally, we also showed that the use of muscle
relaxants does not present a problem, malignant hyperthermia is not
associated with CIPA, and the possibility of abnormalities in the autonomic
nerve system must be taken into consideration. Taking these points
into account, patients with CIPA can be safely managed with anesthesia.