CASE REPORTS
Jayalakshmi, P., McNair Scott, T. F., Tucker, S. H., Schaffer, D. B. (1970) ‘Infantile nystagmus: a prospective study of spasmus nutans, congenital nystagmus, and unclassified nystagmus of infancy.’ Journal of Pediatrics, 71, 177. Kalyanaraman, K.. Jagannathan, K., Ramanujam, R. A., Ramamurthi, B. (1973) ‘Congenital head nodding and nystagmus with cerebrocerebellar degeneration.’ Journal of Pediatrics, 83, 1023. Kinsbourne, M. (1962) ‘Myoclonic encephalopathy of infants.’ Journal of Neurology, Neurosurgery and Psychiatry, 25,271. Lorber, J., Zachary, R. B. (1968) ‘Primary congenital hydrocephalus: long-term results of a controlled therapeutic trial.’ Archives of Disease in Childhood, 43, 5 16. Marshall, J. (1968) ‘Tremor.’ In Vinken, P. J., Bruyn, G. W. (Eds.) Handbook of Clinical Neurology, Vol. 6, New York: Wiley, p. 809. Mayher, W. E., Gindin, R. A. (1970) ‘Head bobbing associated with third ventricular cyst.’ Archives of Neurology, 23, 274. Mealey, J., Gilmor, R. L., Bubb, M. P. (1973) ‘The prognosis of hydrocephalus overt a t birth.’ Journal of Neurosurgery, 39, 348. Nellhaus. G. (19671 - basis.’ Pediatrics. . , ‘The bobble-head doll syndrome: a ‘tic’ with a neuro-Datholoaic 40, 250. Nishiura, N. (1969) ‘A case of bobble-head doll syndrome associated with psychopathic behavior.’ Folia Psychiatrica e f Neurologica (Japan), 23, 275. Norton, E. W. D., Cogan, D. C. (1954) ‘Spasmus nutans: a clinical study of twenty cases followed two years or more since onset.’ Archives of Ophthalmology, 52, 442. Obenchain, T. G., Becker, D. P. (1972) ‘Head bobbing associated with a cyst of the third ventricle.’ Journal of Neurosurgery, 37,457. Patriquin, H. B. (1973) ‘The bobble-head doll syndrome.’ Radiology, 107, 171. Robinson, R. G. (1971) ‘Congenital cysts of the brain: arachnoid malformations.’ Prozress in Neurological Surgery, 4, 133. Russman, B. S., Tucker, S. H., Schut, L. (1975) ‘Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome.’ Journal of Pediatrics, 87. 63. Russo, R. H., Kindt, G.-W. (1974) ‘A neuroanatomical basis for the bobble-head doll syndrome.’ Jortrnal of Neurosurgery, 41, 720. Segall, H. D., Hassan, G., Ling, S. M., Carton, C. (1974) ‘Suprasellar cysts associated with isosexual precocious puberty.’ Radiology, 111, 607. SevfeddiniDur. N. (1974) ‘Das klinische Bild des erweiterten Cavum seoti ~. mllucidi.’ Schweiter Archiv fur Neurologie,’Neurochirurgieund Psychiarrie, 114, 75. Shurtleff, D. B., Eliason, B. C., Oakland, J. A. (1973) ‘Congenital brain cysts in infancy: diagnosis, treatment and follow-up.’ Teratology, 7, 183. Zausmer, D. M. (1954) ‘The treatment of tics in childhood.’ Archives oJ Disease in Childhood, 29, 537.
Histiocytosis X with Benign Intracranial Hypertension Anthony H . Jackson John F. Grifith Introduction The neurological manifestations of histiocytosis X occur infrequently and when they do they usually indicate dissemination of the disease and a poor prognosis. An exception to this generalization is presented in this case report of benign intracranial hypertension, or pseudotumor cerebri, occurring in a patient with histiocytosis X.
tory canal. This was incised and drained and treatment was begun with oral erythromycin. Several days later she developed marked gait ataxia which slowly improved over the ensuing week. The parents said that a few days later K.T. had a transient episode of coarse lateral ‘nystagmoid eye movements which was not accompanied by vertigo or seizure activity. The parents could not tell us whether these eye-movements were pendular or jerk-type. At this point she was noted by her pediatrician to have the papilledema which prompted referral.
Case History
At birth she had had a grayish vesiculopustular eruption over the trunk and neck, which gradually
K.T., a three-year-old female, was referred to Duke University Medical Center because of papilledema. Two weeks previously she had developed an abscess in the right external audi-
~
~~
~~
Correspondence to John F . Griffith, M.D., Division of Pediatric Neurology, Box 2975, Duke University Medical Center, Durham, North Carolina 27710.
783
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY.
changed to a scaly erythematous macular rash, described as “eczematoid seborrheic dermatitis”. This improved but never completely disappeared. She had also had recurrent otitis externa since age six months, which was treated with topical and systemic antibiotics. The pertinent findings on examination included chronic papilledema without hemorrhages, bilateral otitis externa with purulent drainage but with intact, normal-appearing tympanic membranes, and scattered erythematous, papular, eczematoid lesions, especially over the temporal regions of the scalp. There were also hypopigmented maculopapular lesions on the lower back. The only notable neurological findings were horizontal jerk nystagmus, with the fast component to the left with the Nylen-BBrfiny positional test, and a slightly unsteady wide-based gait without lateralization. (The Nylen-Bfirfiny test is useful in determining whether peripheral vestibular dysfunction is present. In this case, right-sided dysfunction was suggested.) X-rays revealed separation of the coronal sutures and a lytic area with scalloped margins in the right mastoid region above the air cells (Figs. la and b). Hemogram, electrolytes, blood urea nitrogen, glucose, urine specific gravity, brain scan, and EEG were all normal. A right brachial arteriogram was normal, except for an anomalous right sigmoid sinus; there was no angiographic evidence of hydrocephalus and all major sinuses were patent. A pneumoencephalogram revealed normal-sized ventricles. Lumbar puncture showed an opening pressure of 235mm CSF with acellular, clear fluid and normal protein. The CSF cytology was normal. All other studies, including metastatic bone survey, liver-spleen scan and sputum cytology, failed to show any evidence of systemic involvement. A right mastoidectomy was performed. Biopsy material from this area and from the scalp lesions revealed classic findings of histiocytosis X. Irradiation amounting to lo00 rads in five divided doses was administered to the right mastoid area over a one-week period. The patient was then discharged. When seen six weeks later the ataxia was no longer evident and the papilledema had almost completely resolved.
1975, 17
occur. Ecchymoses, xanthomas and granulomatous ulcerations, as well as bronze discolorations of the skin, are sometimes seen (Kierland et al. 1957, Altman and Winkelmann 1963). The ear and temporal bone are frequently involved in histiocytosis X (Rosenwasser 1940, Glatt 1946, McGavran and Spady 1960, Hudson and Kenan 1969, Cohn et al. 1970). The scalloped margin of the bony lesion seen on the X-ray of the right mastoid in the patient is a typical finding, differentiating it from both the infective and neoplastic lesions which occur in this region. Increased intracranial pressure is a rare complication of this disorder. Communicating hydrocephalus has been described (Feinberg and Langer 1965), and histiocytic infiltration of the central nervous system may occur. However, the normalsized ventricles and absence of a spaceoccupying lesion on pneumoencephalography in this patient exclude these as explanations for the raised intracranial pressure. These negative findings and the subsequent benign course satisfy the usual criteria required for a diagnosis of benign intracranial hypertension (Foley 1955, Greer 1967, Buchheit el al. 1969, Boddie el al. 1974). There are several reports of what probably represented benign intracranial hypertension in association with histiocytosis X, but it is not a generally recognized complication of this disorder and not referenced in the standard texts on the subject. A 22-year-old male has been described who presented with papilledema, aural discharge, and symptoms of labyrinthine dysfunction (Schuknecht and Perlman 1948). A spinal tap revealed an opening pressure of 170mm CSF, but when repeated two days later under anesthesia the pressure had risen to 500mm CSF. No further comment was made concerning the course of his papilledema, but CSF
Discussion The cutaneous lesions of histiocytosis X are variable. Eczematoid seborrheic dermatitis is the most common, but papulopustular lesions of the type described in this patient’s early course are known to 784
CASE REPORTS
Fig. l a (I
Jayalakshmi, P., McNair Scott, T. F., Tucker, S. H., Schaffer, D. B. (1970) ‘Infantile nystagmus: a prospective study of spasmus nutans, congenital nystagmus, and unclassified nystagmus of infancy.’ Journal of Pediatrics, 71, 177. Kalyanaraman, K.. Jagannathan, K., Ramanujam, R. A., Ramamurthi, B. (1973) ‘Congenital head nodding and nystagmus with cerebrocerebellar degeneration.’ Journal of Pediatrics, 83, 1023. Kinsbourne, M. (1962) ‘Myoclonic encephalopathy of infants.’ Journal of Neurology, Neurosurgery and Psychiatry, 25,271. Lorber, J., Zachary, R. B. (1968) ‘Primary congenital hydrocephalus: long-term results of a controlled therapeutic trial.’ Archives of Disease in Childhood, 43, 5 16. Marshall, J. (1968) ‘Tremor.’ In Vinken, P. J., Bruyn, G. W. (Eds.) Handbook of Clinical Neurology, Vol. 6, New York: Wiley, p. 809. Mayher, W. E., Gindin, R. A. (1970) ‘Head bobbing associated with third ventricular cyst.’ Archives of Neurology, 23, 274. Mealey, J., Gilmor, R. L., Bubb, M. P. (1973) ‘The prognosis of hydrocephalus overt a t birth.’ Journal of Neurosurgery, 39, 348. Nellhaus. G. (19671 - basis.’ Pediatrics. . , ‘The bobble-head doll syndrome: a ‘tic’ with a neuro-Datholoaic 40, 250. Nishiura, N. (1969) ‘A case of bobble-head doll syndrome associated with psychopathic behavior.’ Folia Psychiatrica e f Neurologica (Japan), 23, 275. Norton, E. W. D., Cogan, D. C. (1954) ‘Spasmus nutans: a clinical study of twenty cases followed two years or more since onset.’ Archives of Ophthalmology, 52, 442. Obenchain, T. G., Becker, D. P. (1972) ‘Head bobbing associated with a cyst of the third ventricle.’ Journal of Neurosurgery, 37,457. Patriquin, H. B. (1973) ‘The bobble-head doll syndrome.’ Radiology, 107, 171. Robinson, R. G. (1971) ‘Congenital cysts of the brain: arachnoid malformations.’ Prozress in Neurological Surgery, 4, 133. Russman, B. S., Tucker, S. H., Schut, L. (1975) ‘Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome.’ Journal of Pediatrics, 87. 63. Russo, R. H., Kindt, G.-W. (1974) ‘A neuroanatomical basis for the bobble-head doll syndrome.’ Jortrnal of Neurosurgery, 41, 720. Segall, H. D., Hassan, G., Ling, S. M., Carton, C. (1974) ‘Suprasellar cysts associated with isosexual precocious puberty.’ Radiology, 111, 607. SevfeddiniDur. N. (1974) ‘Das klinische Bild des erweiterten Cavum seoti ~. mllucidi.’ Schweiter Archiv fur Neurologie,’Neurochirurgieund Psychiarrie, 114, 75. Shurtleff, D. B., Eliason, B. C., Oakland, J. A. (1973) ‘Congenital brain cysts in infancy: diagnosis, treatment and follow-up.’ Teratology, 7, 183. Zausmer, D. M. (1954) ‘The treatment of tics in childhood.’ Archives oJ Disease in Childhood, 29, 537.
Histiocytosis X with Benign Intracranial Hypertension Anthony H . Jackson John F. Grifith Introduction The neurological manifestations of histiocytosis X occur infrequently and when they do they usually indicate dissemination of the disease and a poor prognosis. An exception to this generalization is presented in this case report of benign intracranial hypertension, or pseudotumor cerebri, occurring in a patient with histiocytosis X.
tory canal. This was incised and drained and treatment was begun with oral erythromycin. Several days later she developed marked gait ataxia which slowly improved over the ensuing week. The parents said that a few days later K.T. had a transient episode of coarse lateral ‘nystagmoid eye movements which was not accompanied by vertigo or seizure activity. The parents could not tell us whether these eye-movements were pendular or jerk-type. At this point she was noted by her pediatrician to have the papilledema which prompted referral.
Case History
At birth she had had a grayish vesiculopustular eruption over the trunk and neck, which gradually
K.T., a three-year-old female, was referred to Duke University Medical Center because of papilledema. Two weeks previously she had developed an abscess in the right external audi-
~
~~
~~
Correspondence to John F . Griffith, M.D., Division of Pediatric Neurology, Box 2975, Duke University Medical Center, Durham, North Carolina 27710.
783
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY.
changed to a scaly erythematous macular rash, described as “eczematoid seborrheic dermatitis”. This improved but never completely disappeared. She had also had recurrent otitis externa since age six months, which was treated with topical and systemic antibiotics. The pertinent findings on examination included chronic papilledema without hemorrhages, bilateral otitis externa with purulent drainage but with intact, normal-appearing tympanic membranes, and scattered erythematous, papular, eczematoid lesions, especially over the temporal regions of the scalp. There were also hypopigmented maculopapular lesions on the lower back. The only notable neurological findings were horizontal jerk nystagmus, with the fast component to the left with the Nylen-BBrfiny positional test, and a slightly unsteady wide-based gait without lateralization. (The Nylen-Bfirfiny test is useful in determining whether peripheral vestibular dysfunction is present. In this case, right-sided dysfunction was suggested.) X-rays revealed separation of the coronal sutures and a lytic area with scalloped margins in the right mastoid region above the air cells (Figs. la and b). Hemogram, electrolytes, blood urea nitrogen, glucose, urine specific gravity, brain scan, and EEG were all normal. A right brachial arteriogram was normal, except for an anomalous right sigmoid sinus; there was no angiographic evidence of hydrocephalus and all major sinuses were patent. A pneumoencephalogram revealed normal-sized ventricles. Lumbar puncture showed an opening pressure of 235mm CSF with acellular, clear fluid and normal protein. The CSF cytology was normal. All other studies, including metastatic bone survey, liver-spleen scan and sputum cytology, failed to show any evidence of systemic involvement. A right mastoidectomy was performed. Biopsy material from this area and from the scalp lesions revealed classic findings of histiocytosis X. Irradiation amounting to lo00 rads in five divided doses was administered to the right mastoid area over a one-week period. The patient was then discharged. When seen six weeks later the ataxia was no longer evident and the papilledema had almost completely resolved.
1975, 17
occur. Ecchymoses, xanthomas and granulomatous ulcerations, as well as bronze discolorations of the skin, are sometimes seen (Kierland et al. 1957, Altman and Winkelmann 1963). The ear and temporal bone are frequently involved in histiocytosis X (Rosenwasser 1940, Glatt 1946, McGavran and Spady 1960, Hudson and Kenan 1969, Cohn et al. 1970). The scalloped margin of the bony lesion seen on the X-ray of the right mastoid in the patient is a typical finding, differentiating it from both the infective and neoplastic lesions which occur in this region. Increased intracranial pressure is a rare complication of this disorder. Communicating hydrocephalus has been described (Feinberg and Langer 1965), and histiocytic infiltration of the central nervous system may occur. However, the normalsized ventricles and absence of a spaceoccupying lesion on pneumoencephalography in this patient exclude these as explanations for the raised intracranial pressure. These negative findings and the subsequent benign course satisfy the usual criteria required for a diagnosis of benign intracranial hypertension (Foley 1955, Greer 1967, Buchheit el al. 1969, Boddie el al. 1974). There are several reports of what probably represented benign intracranial hypertension in association with histiocytosis X, but it is not a generally recognized complication of this disorder and not referenced in the standard texts on the subject. A 22-year-old male has been described who presented with papilledema, aural discharge, and symptoms of labyrinthine dysfunction (Schuknecht and Perlman 1948). A spinal tap revealed an opening pressure of 170mm CSF, but when repeated two days later under anesthesia the pressure had risen to 500mm CSF. No further comment was made concerning the course of his papilledema, but CSF
Discussion The cutaneous lesions of histiocytosis X are variable. Eczematoid seborrheic dermatitis is the most common, but papulopustular lesions of the type described in this patient’s early course are known to 784
CASE REPORTS
Fig. l a (I
