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Two rare neurocutaneous syndromes
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TWO RARE NEUROCUTANEOUS P.tt.auav (AMSTERDAM)
SYNDROMES
Three patients, a Caucasian buy_ an indonesian boy and a Caucasian girl, with Ito’s hypomelanosis (incontinentia pigmenti achromians), are described. The boys are mentally retarded and show generalized hypotonia. One of the boys has hydrocephalus. epilepsy and congenital malformations of the eyes and teeth. The girl shows asymmetric development of the mammae as is described by Ito. All patients show characteristic disturbances of the pigmentation of the skin. Hypopigmented areas are present in a whorled or ‘marble cake’ configuration on the trunk, the back and the extremities. Electronmicroscopic studies of hypomelanotic and normal skin areas do not reveal abnormalities of melanocytes or Langerhans cells. as described by Stoebner and Grosshans. In the Caucasian boy with other congenital anomalies, an interruption of the basement membrane in the normal skin area is seen. The meaning of this finding is still obscure. A girl aged 8 years is presented with incontinentia pigmenti (Bloch-Sulzberger syndrome). Her sister. aged 3 years. her mother and her mother’s mother have the same X-linked dominant syndrome. This uncommon neurocutaneous syndrome is less rare as Ito’s hypomelanosis. It is characterized by an erythematovesicolous bullous eruption in a linear arrangement during the infantile period. gradually changing in verrucous lesions and finally in pigmentations. The skin manifestations i.e. the gray-brown pigmentations gradually disappear and are usually absent in adult life. Apart from the skin lesions other abnormalities can include the nervous system, teeth, hair and eyes. Our patient has epilepsy; her intelligence is normal. On cranial CT scan a porencephalic cyst is seen. Neil O’Doherty described a girl with this syndrome who died at the age of 7 weeks of pneumonia. At autopsy several cerebral anomalies. including a paraventricular cavity were seen. REFERENCES ITO. M. (1952) Incontinentia
pigmenti achromians. A singular case of nevus depigmentosus systematicus Tohoku Journal of Experimental Medicine 55: 57. O'DOHERTY. N.J. and NORMAN, R.M. (1968) Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. Develop. Med. Child Neural. 10: 168. STOEBNER, P.and GROSSHANS, E.M.(1970) lncontinentia pigmenti achromians (Ito). Etude ultrastructurale. Arch. Klin. Exp. Derm. 239: 227. bilateralis.
WHOLE NIGHT SLEEP EEG AND VIDEO CHILDREN w. VAN E~~DEB~A~,(HEEMSTEDE)
MONITORING
OF SUSPECTED
ICTAL
EVENTS
IN
Uncertainty concerning the possible epileptic origin of nocturnal behavioral disturbances in children is a common diagnostic prablem. When conventional studies remain inconclusive intensive EEG- and video monitoring may provide the answer to the question asked by the parents or the referring physician. Fifty-five whole night sleep recordings from 45 children aged l-14 years with known or suspected epilepsy were reviewed to evaluate the clinical value of this expensive and time consuming diagnostic procedure. All night EEGs were recorded with 16 or 20 channel cable telemetry equipment. combined with continuous video monitoring. Nocturnal events that prompted monitoring were mainly suspected or known epileptic seizures (22 studies). behavioral disturbances ofunknown origin (18 studies) or enuresis nocturna (I 1 studies). Clinical questions concerned primarily the epileptic nature of the nocturnal events (36 registrations), their actual documentation and their frequency (16 registrations) or an objective verdict in cases of a discrepancy between parental and nursing observations (12 registrations). Intensive monitoring provided the answer in 72.7% of all cases. Clinical observation, although insufficient for solving the problem, proved valuable for identifying those patients in whom whole night sleep monitoring was indicated. The results in in-patients (85.7% of clinical questions answered) were consistently better than in out-patients (50%). A discrepancy between parental and nursing observations could be solved in 100% of the cases, usually in favor of the parents. Overall intensive sleep monitoring proved a valuable diagnostic method.
TWO RARE NEUROCUTANEOUS P.tt.auav (AMSTERDAM)
SYNDROMES
Three patients, a Caucasian buy_ an indonesian boy and a Caucasian girl, with Ito’s hypomelanosis (incontinentia pigmenti achromians), are described. The boys are mentally retarded and show generalized hypotonia. One of the boys has hydrocephalus. epilepsy and congenital malformations of the eyes and teeth. The girl shows asymmetric development of the mammae as is described by Ito. All patients show characteristic disturbances of the pigmentation of the skin. Hypopigmented areas are present in a whorled or ‘marble cake’ configuration on the trunk, the back and the extremities. Electronmicroscopic studies of hypomelanotic and normal skin areas do not reveal abnormalities of melanocytes or Langerhans cells. as described by Stoebner and Grosshans. In the Caucasian boy with other congenital anomalies, an interruption of the basement membrane in the normal skin area is seen. The meaning of this finding is still obscure. A girl aged 8 years is presented with incontinentia pigmenti (Bloch-Sulzberger syndrome). Her sister. aged 3 years. her mother and her mother’s mother have the same X-linked dominant syndrome. This uncommon neurocutaneous syndrome is less rare as Ito’s hypomelanosis. It is characterized by an erythematovesicolous bullous eruption in a linear arrangement during the infantile period. gradually changing in verrucous lesions and finally in pigmentations. The skin manifestations i.e. the gray-brown pigmentations gradually disappear and are usually absent in adult life. Apart from the skin lesions other abnormalities can include the nervous system, teeth, hair and eyes. Our patient has epilepsy; her intelligence is normal. On cranial CT scan a porencephalic cyst is seen. Neil O’Doherty described a girl with this syndrome who died at the age of 7 weeks of pneumonia. At autopsy several cerebral anomalies. including a paraventricular cavity were seen. REFERENCES ITO. M. (1952) Incontinentia
pigmenti achromians. A singular case of nevus depigmentosus systematicus Tohoku Journal of Experimental Medicine 55: 57. O'DOHERTY. N.J. and NORMAN, R.M. (1968) Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. Develop. Med. Child Neural. 10: 168. STOEBNER, P.and GROSSHANS, E.M.(1970) lncontinentia pigmenti achromians (Ito). Etude ultrastructurale. Arch. Klin. Exp. Derm. 239: 227. bilateralis.
WHOLE NIGHT SLEEP EEG AND VIDEO CHILDREN w. VAN E~~DEB~A~,(HEEMSTEDE)
MONITORING
OF SUSPECTED
ICTAL
EVENTS
IN
Uncertainty concerning the possible epileptic origin of nocturnal behavioral disturbances in children is a common diagnostic prablem. When conventional studies remain inconclusive intensive EEG- and video monitoring may provide the answer to the question asked by the parents or the referring physician. Fifty-five whole night sleep recordings from 45 children aged l-14 years with known or suspected epilepsy were reviewed to evaluate the clinical value of this expensive and time consuming diagnostic procedure. All night EEGs were recorded with 16 or 20 channel cable telemetry equipment. combined with continuous video monitoring. Nocturnal events that prompted monitoring were mainly suspected or known epileptic seizures (22 studies). behavioral disturbances ofunknown origin (18 studies) or enuresis nocturna (I 1 studies). Clinical questions concerned primarily the epileptic nature of the nocturnal events (36 registrations), their actual documentation and their frequency (16 registrations) or an objective verdict in cases of a discrepancy between parental and nursing observations (12 registrations). Intensive monitoring provided the answer in 72.7% of all cases. Clinical observation, although insufficient for solving the problem, proved valuable for identifying those patients in whom whole night sleep monitoring was indicated. The results in in-patients (85.7% of clinical questions answered) were consistently better than in out-patients (50%). A discrepancy between parental and nursing observations could be solved in 100% of the cases, usually in favor of the parents. Overall intensive sleep monitoring proved a valuable diagnostic method.